Canonical Allele Identifier: CA1097963907

Gene: PMS2

Linked Data

• gnomAD v3: 7-5989618-A-AG
• gnomAD v4: 7-5989618-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989618_5989619insG , CM000669.2:g.5989618_5989619insG	GRCh38
NC_000007.13:g.6029249_6029250insG , CM000669.1:g.6029249_6029250insG	GRCh37
NC_000007.12:g.5995775_5995776insG	NCBI36
NG_008466.1:g.24488_24489insC , LRG_161:g.24488_24489insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*540+181_*540+182insC	ENSP00000514615.2:n.*540+181_*540+182insC
ENST00000699840.2:c.1141+181_1141+182insC	ENSP00000514638.2:n.1141+181_1141+182insC
ENST00000699930.2:c.1036+181_1036+182insC	ENSP00000514695.2:n.1036+181_1036+182insC
ENST00000406569.8:c.1144+181_1144+182insC	ENSP00000514464.1:n.1144+181_1144+182insC
ENST00000644110.2:c.*738+181_*738+182insC	ENSP00000496392.2:n.*738+181_*738+182insC
ENST00000699752.1:c.989-1999_989-1998insC	ENSP00000514561.1:n.989-1999_989-1998insC
ENST00000699753.1:c.*565+181_*565+182insC	ENSP00000514562.1:n.*565+181_*565+182insC
ENST00000699754.1:c.946+181_946+182insC	ENSP00000514563.1:n.946+181_946+182insC
ENST00000699755.1:c.*543+181_*543+182insC	ENSP00000514564.1:n.*543+181_*543+182insC
ENST00000699756.1:c.*731+181_*731+182insC	ENSP00000514565.1:n.*731+181_*731+182insC
ENST00000699757.1:c.*401+181_*401+182insC	ENSP00000514566.1:n.*401+181_*401+182insC
ENST00000699758.1:c.*401+181_*401+182insC	ENSP00000514567.1:n.*401+181_*401+182insC
ENST00000699759.1:n.1998+181_1998+182insC
ENST00000699760.1:c.826+181_826+182insC	ENSP00000514568.1:n.826+181_826+182insC
ENST00000699761.1:c.739+181_739+182insC	ENSP00000514569.1:n.739+181_739+182insC
ENST00000699762.1:c.571+181_571+182insC	ENSP00000514570.1:n.571+181_571+182insC
ENST00000699763.1:c.*234+181_*234+182insC	ENSP00000514571.1:n.*234+181_*234+182insC
ENST00000699764.1:c.1144+181_1144+182insC	ENSP00000514572.1:n.1144+181_1144+182insC
ENST00000699765.1:c.*240+181_*240+182insC	ENSP00000514573.1:n.*240+181_*240+182insC
ENST00000699766.1:c.1144+181_1144+182insC	ENSP00000514574.1:n.1144+181_1144+182insC
ENST00000699767.1:c.1144+181_1144+182insC	ENSP00000514575.1:n.1144+181_1144+182insC
ENST00000699768.1:c.1144+181_1144+182insC	ENSP00000514576.1:n.1144+181_1144+182insC
ENST00000699811.1:c.739+181_739+182insC	ENSP00000514614.1:n.739+181_739+182insC
ENST00000699813.1:n.1257+181_1257+182insC
ENST00000699814.1:c.767+181_767+182insC
ENST00000699815.1:c.*636+181_*636+182insC	ENSP00000514616.1:n.*636+181_*636+182insC
ENST00000699816.1:c.739+181_739+182insC	ENSP00000514617.1:n.739+181_739+182insC
ENST00000699817.1:c.*738+181_*738+182insC	ENSP00000514618.1:n.*738+181_*738+182insC
ENST00000699818.1:c.739+181_739+182insC	ENSP00000514619.1:n.739+181_739+182insC
ENST00000699819.1:c.*301+181_*301+182insC	ENSP00000514620.1:n.*301+181_*301+182insC
ENST00000699820.1:c.1144+181_1144+182insC	ENSP00000514621.1:n.1144+181_1144+182insC
ENST00000699821.1:c.739+181_739+182insC	ENSP00000514622.1:n.739+181_739+182insC
ENST00000699822.1:c.*596+181_*596+182insC	ENSP00000514623.1:n.*596+181_*596+182insC
ENST00000699823.1:c.739+181_739+182insC	ENSP00000514624.1:n.739+181_739+182insC
ENST00000699824.1:c.*647+181_*647+182insC	ENSP00000514625.1:n.*647+181_*647+182insC
ENST00000699825.1:c.584-1999_584-1998insC	ENSP00000514626.1:n.584-1999_584-1998insC
ENST00000699826.1:c.*543+181_*543+182insC	ENSP00000514627.1:n.*543+181_*543+182insC
ENST00000699827.1:c.976+181_976+182insC	ENSP00000514628.1:n.976+181_976+182insC
ENST00000699828.1:c.*234+181_*234+182insC	ENSP00000514629.1:n.*234+181_*234+182insC
ENST00000699829.1:c.*645+181_*645+182insC	ENSP00000514630.1:n.*645+181_*645+182insC
ENST00000699830.1:c.*543+181_*543+182insC	ENSP00000514631.1:n.*543+181_*543+182insC
ENST00000699833.1:n.2916+181_2916+182insC
ENST00000699837.1:c.739+181_739+182insC	ENSP00000514635.1:n.739+181_739+182insC
ENST00000699838.1:c.*1044+181_*1044+182insC	ENSP00000514636.1:n.*1044+181_*1044+182insC
ENST00000699839.1:c.1330+181_1330+182insC	ENSP00000514637.1:n.1330+181_1330+182insC
ENST00000699840.1:c.1141+181_1141+182insC	ENSP00000514638.1:n.1141+181_1141+182insC
ENST00000699916.1:c.*401+181_*401+182insC	ENSP00000514684.1:n.*401+181_*401+182insC
ENST00000699917.1:c.*593+181_*593+182insC	ENSP00000514685.1:n.*593+181_*593+182insC
ENST00000699918.1:c.*645+181_*645+182insC	ENSP00000514686.1:n.*645+181_*645+182insC
ENST00000699919.1:c.*731+181_*731+182insC	ENSP00000514687.1:n.*731+181_*731+182insC
ENST00000699920.1:c.*780+181_*780+182insC	ENSP00000514688.1:n.*780+181_*780+182insC
ENST00000699928.1:c.988+2354_988+2355insC	ENSP00000514693.1:n.988+2354_988+2355insC
ENST00000699929.1:c.*445+181_*445+182insC	ENSP00000514694.1:n.*445+181_*445+182insC
ENST00000699930.1:c.1036+181_1036+182insC	ENSP00000514695.1:n.1036+181_1036+182insC
ENST00000699931.1:n.2572+181_2572+182insC
ENST00000699932.1:c.*362+181_*362+182insC	ENSP00000514696.1:n.*362+181_*362+182insC
ENST00000699951.1:c.*240+181_*240+182insC	ENSP00000514706.1:n.*240+181_*240+182insC
ENST00000699952.1:c.803+7707_803+7708insC	ENSP00000514707.1:n.803+7707_803+7708insC
ENST00000699953.1:c.*251+181_*251+182insC	ENSP00000514708.1:n.*251+181_*251+182insC
ENST00000699954.1:c.*445+181_*445+182insC	ENSP00000514709.1:n.*445+181_*445+182insC
ENST00000265849.12:c.1144+181_1144+182insC MANE Select	ENSP00000265849.7:n.1144+181_1144+182insC
ENST00000642292.1:c.739+181_739+182insC	ENSP00000495524.1:n.739+181_739+182insC
ENST00000642456.1:c.739+181_739+182insC	ENSP00000493814.1:n.739+181_739+182insC
ENST00000643595.1:c.*543+181_*543+182insC	ENSP00000494497.1:n.*543+181_*543+182insC
ENST00000644110.1:c.826+181_826+182insC	ENSP00000496392.1:n.826+181_826+182insC
ENST00000265849.11:c.1144+181_1144+182insC	ENSP00000265849.7:n.1144+181_1144+182insC
ENST00000382321.5:c.804-6628_804-6627insC	ENSP00000371758.4:n.804-6628_804-6627insC
ENST00000406569.7:n.1144+181_1144+182insC
ENST00000441476.6:c.826+181_826+182insC	ENSP00000392843.2:n.826+181_826+182insC
ENST00000469652.1:n.63-6714_63-6713insC
NM_000535.5:c.1144+181_1144+182insC , LRG_161t1:c.1144+181_1144+182insC	NP_000526.1:n.1144+181_1144+182insC
NR_003085.2:n.1226+181_1226+182insC
XM_006715742.2:c.1138+181_1138+182insC	XP_006715805.1:n.1138+181_1138+182insC
XM_006715744.2:c.211+181_211+182insC	XP_006715807.1:n.211+181_211+182insC
XM_011515427.1:c.1189+181_1189+182insC	XP_011513729.1:n.1189+181_1189+182insC
XM_011515428.1:c.1034-1999_1034-1998insC	XP_011513730.1:n.1034-1999_1034-1998insC
XM_011515429.1:c.826+181_826+182insC	XP_011513731.1:n.826+181_826+182insC
XM_011515430.1:c.826+181_826+182insC	XP_011513732.1:n.826+181_826+182insC
NM_000535.6:c.1144+181_1144+182insC	NP_000526.2:n.1144+181_1144+182insC
NM_001322003.1:c.739+181_739+182insC	NP_001308932.1:n.739+181_739+182insC
NM_001322004.1:c.739+181_739+182insC	NP_001308933.1:n.739+181_739+182insC
NM_001322005.1:c.739+181_739+182insC	NP_001308934.1:n.739+181_739+182insC
NM_001322006.1:c.989-1999_989-1998insC	NP_001308935.1:n.989-1999_989-1998insC
NM_001322007.1:c.826+181_826+182insC	NP_001308936.1:n.826+181_826+182insC
NM_001322008.1:c.826+181_826+182insC	NP_001308937.1:n.826+181_826+182insC
NM_001322009.1:c.739+181_739+182insC	NP_001308938.1:n.739+181_739+182insC
NM_001322010.1:c.584-1999_584-1998insC	NP_001308939.1:n.584-1999_584-1998insC
NM_001322011.1:c.211+181_211+182insC	NP_001308940.1:n.211+181_211+182insC
NM_001322012.1:c.211+181_211+182insC	NP_001308941.1:n.211+181_211+182insC
NM_001322013.1:c.571+181_571+182insC	NP_001308942.1:n.571+181_571+182insC
NM_001322014.1:c.1144+181_1144+182insC	NP_001308943.1:n.1144+181_1144+182insC
NM_001322015.1:c.835+181_835+182insC	NP_001308944.1:n.835+181_835+182insC
NR_136154.1:n.1231+181_1231+182insC
XM_006715744.4:c.211+181_211+182insC	XP_006715807.1:n.211+181_211+182insC
XM_017012342.2:c.211+181_211+182insC	XP_016867831.1:n.211+181_211+182insC
XM_024446800.1:c.584-1999_584-1998insC	XP_024302568.1:n.584-1999_584-1998insC
NM_000535.7:c.1144+181_1144+182insC MANE Select	NP_000526.2:n.1144+181_1144+182insC
NM_001322003.2:c.739+181_739+182insC	NP_001308932.1:n.739+181_739+182insC
NM_001322004.2:c.739+181_739+182insC	NP_001308933.1:n.739+181_739+182insC
NM_001322005.2:c.739+181_739+182insC	NP_001308934.1:n.739+181_739+182insC
NM_001322006.2:c.989-1999_989-1998insC	NP_001308935.1:n.989-1999_989-1998insC
NM_001322008.2:c.826+181_826+182insC	NP_001308937.1:n.826+181_826+182insC
NM_001322009.2:c.739+181_739+182insC	NP_001308938.1:n.739+181_739+182insC
NM_001322010.2:c.584-1999_584-1998insC	NP_001308939.1:n.584-1999_584-1998insC
NM_001322011.2:c.211+181_211+182insC	NP_001308940.1:n.211+181_211+182insC
NM_001322012.2:c.211+181_211+182insC	NP_001308941.1:n.211+181_211+182insC
NM_001322013.2:c.571+181_571+182insC	NP_001308942.1:n.571+181_571+182insC
NM_001322014.2:c.1144+181_1144+182insC	NP_001308943.1:n.1144+181_1144+182insC
NM_001322015.2:c.835+181_835+182insC	NP_001308944.1:n.835+181_835+182insC
NM_001322007.2:c.826+181_826+182insC	NP_001308936.1:n.826+181_826+182insC