Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986798del , CM000669.2:g.5986798del	GRCh38
NC_000007.13:g.6026429del , CM000669.1:g.6026429del	GRCh37
NC_000007.12:g.5992955del	NCBI36
NG_008466.1:g.27312del , LRG_161:g.27312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1366del	ENSP00000514615.2:n.*1366del
ENST00000699840.2:c.1967del	ENSP00000514638.2:p.Asn656IlefsTer8
ENST00000699930.2:c.1862del	ENSP00000514695.2:p.Asn621IlefsTer8
ENST00000406569.8:c.1678+292del	ENSP00000514464.1:n.1678+292del
ENST00000644110.2:c.*1564del	ENSP00000496392.2:n.*1564del
ENST00000699752.1:c.1814del	ENSP00000514561.1:p.Asn605IlefsTer8
ENST00000699753.1:c.*1391del	ENSP00000514562.1:n.*1391del
ENST00000699754.1:c.1772del	ENSP00000514563.1:p.Asn591IlefsTer8
ENST00000699755.1:c.*1369del	ENSP00000514564.1:n.*1369del
ENST00000699756.1:c.*1557del	ENSP00000514565.1:n.*1557del
ENST00000699757.1:c.*1227del	ENSP00000514566.1:n.*1227del
ENST00000699758.1:c.*1227del	ENSP00000514567.1:n.*1227del
ENST00000699759.1:n.2824del
ENST00000699760.1:c.1652del	ENSP00000514568.1:p.Asn551IlefsTer8
ENST00000699761.1:c.1565del	ENSP00000514569.1:p.Asn522IlefsTer8
ENST00000699762.1:c.1397del	ENSP00000514570.1:p.Asn466IlefsTer8
ENST00000699763.1:c.*1060del	ENSP00000514571.1:n.*1060del
ENST00000699764.1:c.*288del	ENSP00000514572.1:n.*288del
ENST00000699765.1:c.*1066del	ENSP00000514573.1:n.*1066del
ENST00000699766.1:c.1970del	ENSP00000514574.1:p.Asn657IlefsTer8
ENST00000699767.1:c.1970del	ENSP00000514575.1:p.Asn657IlefsTer8
ENST00000699768.1:c.1970del	ENSP00000514576.1:p.Asn657IlefsTer8
ENST00000699811.1:c.1565del	ENSP00000514614.1:p.Asn522IlefsTer8
ENST00000699813.1:n.2083del
ENST00000699814.1:c.1593del
ENST00000699815.1:c.*1501del	ENSP00000514616.1:n.*1501del
ENST00000699816.1:c.*860del	ENSP00000514617.1:n.*860del
ENST00000699817.1:c.*1564del	ENSP00000514618.1:n.*1564del
ENST00000699818.1:c.1565del	ENSP00000514619.1:p.Asn522IlefsTer8
ENST00000699819.1:c.*1127del	ENSP00000514620.1:n.*1127del
ENST00000699820.1:c.1144+3005del	ENSP00000514621.1:n.1144+3005del
ENST00000699821.1:c.1565del	ENSP00000514622.1:p.Asn522IlefsTer8
ENST00000699822.1:c.*1422del	ENSP00000514623.1:n.*1422del
ENST00000699823.1:c.1565del	ENSP00000514624.1:p.Asn522IlefsTer8
ENST00000699824.1:c.*1473del	ENSP00000514625.1:n.*1473del
ENST00000699825.1:c.1409del	ENSP00000514626.1:p.Asn470IlefsTer8
ENST00000699826.1:c.*1369del	ENSP00000514627.1:n.*1369del
ENST00000699827.1:c.1802del	ENSP00000514628.1:p.Asn601IlefsTer8
ENST00000699828.1:c.*1060del	ENSP00000514629.1:n.*1060del
ENST00000699833.1:n.3742del
ENST00000699837.1:c.1565del	ENSP00000514635.1:p.Asn522IlefsTer8
ENST00000699838.1:c.*1870del	ENSP00000514636.1:n.*1870del
ENST00000699839.1:c.2156del	ENSP00000514637.1:p.Asn719IlefsTer8
ENST00000699916.1:c.*1227del	ENSP00000514684.1:n.*1227del
ENST00000699917.1:c.*1419del	ENSP00000514685.1:n.*1419del
ENST00000699918.1:c.*1471del	ENSP00000514686.1:n.*1471del
ENST00000699919.1:c.*1557del	ENSP00000514687.1:n.*1557del
ENST00000699920.1:c.*1606del	ENSP00000514688.1:n.*1606del
ENST00000699928.1:c.989-3804del	ENSP00000514693.1:n.989-3804del
ENST00000699951.1:c.*1066del	ENSP00000514706.1:n.*1066del
ENST00000699952.1:c.803+10531del	ENSP00000514707.1:n.803+10531del
ENST00000265849.12:c.1970del MANE Select	ENSP00000265849.7:p.Asn657IlefsTer8
ENST00000642292.1:c.1565del	ENSP00000495524.1:p.Asn522IlefsTer8
ENST00000642456.1:c.1565del	ENSP00000493814.1:p.Asn522IlefsTer8
ENST00000643595.1:c.*1369del	ENSP00000494497.1:n.*1369del
ENST00000644110.1:c.1652del	ENSP00000496392.1:p.Asn551IlefsTer8
ENST00000265849.11:c.1970del	ENSP00000265849.7:p.Asn657IlefsTer8
ENST00000382321.5:c.804-3804del	ENSP00000371758.4:n.804-3804del
ENST00000406569.7:n.1678+292del
ENST00000441476.6:c.1652del	ENSP00000392843.2:p.Asn551IlefsTer8
ENST00000469652.1:n.63-3890del
NM_000535.5:c.1970del , LRG_161t1:c.1970del	NP_000526.1:p.Asn657IlefsTer8
NR_003085.2:n.2052del
XM_006715742.2:c.1964del	XP_006715805.1:p.Asn655IlefsTer8
XM_006715744.2:c.1037del	XP_006715807.1:p.Asn346IlefsTer8
XM_011515427.1:c.2015del	XP_011513729.1:p.Asn672IlefsTer8
XM_011515428.1:c.1859del	XP_011513730.1:p.Asn620IlefsTer8
XM_011515429.1:c.1652del	XP_011513731.1:p.Asn551IlefsTer8
XM_011515430.1:c.1652del	XP_011513732.1:p.Asn551IlefsTer8
NM_000535.6:c.1970del	NP_000526.2:p.Asn657IlefsTer8
NM_001322003.1:c.1565del	NP_001308932.1:p.Asn522IlefsTer8
NM_001322004.1:c.1565del	NP_001308933.1:p.Asn522IlefsTer8
NM_001322005.1:c.1565del	NP_001308934.1:p.Asn522IlefsTer8
NM_001322006.1:c.1814del	NP_001308935.1:p.Asn605IlefsTer8
NM_001322007.1:c.1652del	NP_001308936.1:p.Asn551IlefsTer8
NM_001322008.1:c.1652del	NP_001308937.1:p.Asn551IlefsTer8
NM_001322009.1:c.1565del	NP_001308938.1:p.Asn522IlefsTer8
NM_001322010.1:c.1409del	NP_001308939.1:p.Asn470IlefsTer8
NM_001322011.1:c.1037del	NP_001308940.1:p.Asn346IlefsTer8
NM_001322012.1:c.1037del	NP_001308941.1:p.Asn346IlefsTer8
NM_001322013.1:c.1397del	NP_001308942.1:p.Asn466IlefsTer8
NM_001322014.1:c.1970del	NP_001308943.1:p.Asn657IlefsTer8
NM_001322015.1:c.1661del	NP_001308944.1:p.Asn554IlefsTer8
NR_136154.1:n.2057del
XM_006715744.4:c.1037del	XP_006715807.1:p.Asn346IlefsTer8
XM_017012342.2:c.1037del	XP_016867831.1:p.Asn346IlefsTer8
XM_024446800.1:c.1409del	XP_024302568.1:p.Asn470IlefsTer8
NM_000535.7:c.1970del MANE Select	NP_000526.2:p.Asn657IlefsTer8
NM_001322003.2:c.1565del	NP_001308932.1:p.Asn522IlefsTer8
NM_001322004.2:c.1565del	NP_001308933.1:p.Asn522IlefsTer8
NM_001322005.2:c.1565del	NP_001308934.1:p.Asn522IlefsTer8
NM_001322006.2:c.1814del	NP_001308935.1:p.Asn605IlefsTer8
NM_001322008.2:c.1652del	NP_001308937.1:p.Asn551IlefsTer8
NM_001322009.2:c.1565del	NP_001308938.1:p.Asn522IlefsTer8
NM_001322010.2:c.1409del	NP_001308939.1:p.Asn470IlefsTer8
NM_001322011.2:c.1037del	NP_001308940.1:p.Asn346IlefsTer8
NM_001322012.2:c.1037del	NP_001308941.1:p.Asn346IlefsTer8
NM_001322013.2:c.1397del	NP_001308942.1:p.Asn466IlefsTer8
NM_001322014.2:c.1970del	NP_001308943.1:p.Asn657IlefsTer8
NM_001322015.2:c.1661del	NP_001308944.1:p.Asn554IlefsTer8
NM_001322007.2:c.1652del	NP_001308936.1:p.Asn551IlefsTer8

Linked Data

Genomic Alleles

Transcript Alleles