Canonical Allele Identifier: CA1685225816

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986828_5986829delinsCT , CM000669.2:g.5986828_5986829delinsCT	GRCh38
NC_000007.13:g.6026459_6026460delinsCT , CM000669.1:g.6026459_6026460delinsCT	GRCh37
NC_000007.12:g.5992985_5992986delinsCT	NCBI36
NG_008466.1:g.27278_27279delinsAG , LRG_161:g.27278_27279delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1332_*1333delinsAG	ENSP00000514615.2:n.*1332_*1333delinsAG
ENST00000699840.2:c.1933_1934delinsAG	ENSP00000514638.2:p.Arg645=
ENST00000699930.2:c.1828_1829delinsAG	ENSP00000514695.2:p.Arg610=
ENST00000406569.8:c.1678+258_1678+259delinsAG	ENSP00000514464.1:n.1678+258_1678+259delinsAG
ENST00000644110.2:c.*1530_*1531delinsAG	ENSP00000496392.2:n.*1530_*1531delinsAG
ENST00000699752.1:c.1780_1781delinsAG	ENSP00000514561.1:p.Arg594=
ENST00000699753.1:c.*1357_*1358delinsAG	ENSP00000514562.1:n.*1357_*1358delinsAG
ENST00000699754.1:c.1738_1739delinsAG	ENSP00000514563.1:p.Arg580=
ENST00000699755.1:c.*1335_*1336delinsAG	ENSP00000514564.1:n.*1335_*1336delinsAG
ENST00000699756.1:c.*1523_*1524delinsAG	ENSP00000514565.1:n.*1523_*1524delinsAG
ENST00000699757.1:c.*1193_*1194delinsAG	ENSP00000514566.1:n.*1193_*1194delinsAG
ENST00000699758.1:c.*1193_*1194delinsAG	ENSP00000514567.1:n.*1193_*1194delinsAG
ENST00000699759.1:n.2790_2791delinsAG
ENST00000699760.1:c.1618_1619delinsAG	ENSP00000514568.1:p.Arg540=
ENST00000699761.1:c.1531_1532delinsAG	ENSP00000514569.1:p.Arg511=
ENST00000699762.1:c.1363_1364delinsAG	ENSP00000514570.1:p.Arg455=
ENST00000699763.1:c.*1026_*1027delinsAG	ENSP00000514571.1:n.*1026_*1027delinsAG
ENST00000699764.1:c.*254_*255delinsAG	ENSP00000514572.1:n.*254_*255delinsAG
ENST00000699765.1:c.*1032_*1033delinsAG	ENSP00000514573.1:n.*1032_*1033delinsAG
ENST00000699766.1:c.1936_1937delinsAG	ENSP00000514574.1:p.Arg646=
ENST00000699767.1:c.1936_1937delinsAG	ENSP00000514575.1:p.Arg646=
ENST00000699768.1:c.1936_1937delinsAG	ENSP00000514576.1:p.Arg646=
ENST00000699811.1:c.1531_1532delinsAG	ENSP00000514614.1:p.Arg511=
ENST00000699813.1:n.2049_2050delinsAG
ENST00000699814.1:c.1559_1560delinsAG
ENST00000699815.1:c.*1467_*1468delinsAG	ENSP00000514616.1:n.*1467_*1468delinsAG
ENST00000699816.1:c.*826_*827delinsAG	ENSP00000514617.1:n.*826_*827delinsAG
ENST00000699817.1:c.*1530_*1531delinsAG	ENSP00000514618.1:n.*1530_*1531delinsAG
ENST00000699818.1:c.1531_1532delinsAG	ENSP00000514619.1:p.Arg511=
ENST00000699819.1:c.*1093_*1094delinsAG	ENSP00000514620.1:n.*1093_*1094delinsAG
ENST00000699820.1:c.1144+2971_1144+2972delinsAG	ENSP00000514621.1:n.1144+2971_1144+2972delinsAG
ENST00000699821.1:c.1531_1532delinsAG	ENSP00000514622.1:p.Arg511=
ENST00000699822.1:c.*1388_*1389delinsAG	ENSP00000514623.1:n.*1388_*1389delinsAG
ENST00000699823.1:c.1531_1532delinsAG	ENSP00000514624.1:p.Arg511=
ENST00000699824.1:c.*1439_*1440delinsAG	ENSP00000514625.1:n.*1439_*1440delinsAG
ENST00000699825.1:c.1375_1376delinsAG	ENSP00000514626.1:p.Arg459=
ENST00000699826.1:c.*1335_*1336delinsAG	ENSP00000514627.1:n.*1335_*1336delinsAG
ENST00000699827.1:c.1768_1769delinsAG	ENSP00000514628.1:p.Arg590=
ENST00000699828.1:c.*1026_*1027delinsAG	ENSP00000514629.1:n.*1026_*1027delinsAG
ENST00000699833.1:n.3708_3709delinsAG
ENST00000699837.1:c.1531_1532delinsAG	ENSP00000514635.1:p.Arg511=
ENST00000699838.1:c.*1836_*1837delinsAG	ENSP00000514636.1:n.*1836_*1837delinsAG
ENST00000699839.1:c.2122_2123delinsAG	ENSP00000514637.1:p.Arg708=
ENST00000699916.1:c.*1193_*1194delinsAG	ENSP00000514684.1:n.*1193_*1194delinsAG
ENST00000699917.1:c.*1385_*1386delinsAG	ENSP00000514685.1:n.*1385_*1386delinsAG
ENST00000699918.1:c.*1437_*1438delinsAG	ENSP00000514686.1:n.*1437_*1438delinsAG
ENST00000699919.1:c.*1523_*1524delinsAG	ENSP00000514687.1:n.*1523_*1524delinsAG
ENST00000699920.1:c.*1572_*1573delinsAG	ENSP00000514688.1:n.*1572_*1573delinsAG
ENST00000699928.1:c.989-3838_989-3837delinsAG	ENSP00000514693.1:n.989-3838_989-3837delinsAG
ENST00000699951.1:c.*1032_*1033delinsAG	ENSP00000514706.1:n.*1032_*1033delinsAG
ENST00000699952.1:c.803+10497_803+10498delinsAG	ENSP00000514707.1:n.803+10497_803+10498delinsAG
ENST00000265849.12:c.1936_1937delinsAG MANE Select	ENSP00000265849.7:p.Arg646=
ENST00000642292.1:c.1531_1532delinsAG	ENSP00000495524.1:p.Arg511=
ENST00000642456.1:c.1531_1532delinsAG	ENSP00000493814.1:p.Arg511=
ENST00000643595.1:c.*1335_*1336delinsAG	ENSP00000494497.1:n.*1335_*1336delinsAG
ENST00000644110.1:c.1618_1619delinsAG	ENSP00000496392.1:p.Arg540=
ENST00000265849.11:c.1936_1937delinsAG	ENSP00000265849.7:p.Arg646=
ENST00000382321.5:c.804-3838_804-3837delinsAG	ENSP00000371758.4:n.804-3838_804-3837delinsAG
ENST00000406569.7:n.1678+258_1678+259delinsAG
ENST00000441476.6:c.1618_1619delinsAG	ENSP00000392843.2:p.Arg540=
ENST00000469652.1:n.63-3924_63-3923delinsAG
NM_000535.5:c.1936_1937delinsAG , LRG_161t1:c.1936_1937delinsAG	NP_000526.1:p.Arg646=
NR_003085.2:n.2018_2019delinsAG
XM_006715742.2:c.1930_1931delinsAG	XP_006715805.1:p.Arg644=
XM_006715744.2:c.1003_1004delinsAG	XP_006715807.1:p.Arg335=
XM_011515427.1:c.1981_1982delinsAG	XP_011513729.1:p.Arg661=
XM_011515428.1:c.1825_1826delinsAG	XP_011513730.1:p.Arg609=
XM_011515429.1:c.1618_1619delinsAG	XP_011513731.1:p.Arg540=
XM_011515430.1:c.1618_1619delinsAG	XP_011513732.1:p.Arg540=
NM_000535.6:c.1936_1937delinsAG	NP_000526.2:p.Arg646=
NM_001322003.1:c.1531_1532delinsAG	NP_001308932.1:p.Arg511=
NM_001322004.1:c.1531_1532delinsAG	NP_001308933.1:p.Arg511=
NM_001322005.1:c.1531_1532delinsAG	NP_001308934.1:p.Arg511=
NM_001322006.1:c.1780_1781delinsAG	NP_001308935.1:p.Arg594=
NM_001322007.1:c.1618_1619delinsAG	NP_001308936.1:p.Arg540=
NM_001322008.1:c.1618_1619delinsAG	NP_001308937.1:p.Arg540=
NM_001322009.1:c.1531_1532delinsAG	NP_001308938.1:p.Arg511=
NM_001322010.1:c.1375_1376delinsAG	NP_001308939.1:p.Arg459=
NM_001322011.1:c.1003_1004delinsAG	NP_001308940.1:p.Arg335=
NM_001322012.1:c.1003_1004delinsAG	NP_001308941.1:p.Arg335=
NM_001322013.1:c.1363_1364delinsAG	NP_001308942.1:p.Arg455=
NM_001322014.1:c.1936_1937delinsAG	NP_001308943.1:p.Arg646=
NM_001322015.1:c.1627_1628delinsAG	NP_001308944.1:p.Arg543=
NR_136154.1:n.2023_2024delinsAG
XM_006715744.4:c.1003_1004delinsAG	XP_006715807.1:p.Arg335=
XM_017012342.2:c.1003_1004delinsAG	XP_016867831.1:p.Arg335=
XM_024446800.1:c.1375_1376delinsAG	XP_024302568.1:p.Arg459=
NM_000535.7:c.1936_1937delinsAG MANE Select	NP_000526.2:p.Arg646=
NM_001322003.2:c.1531_1532delinsAG	NP_001308932.1:p.Arg511=
NM_001322004.2:c.1531_1532delinsAG	NP_001308933.1:p.Arg511=
NM_001322005.2:c.1531_1532delinsAG	NP_001308934.1:p.Arg511=
NM_001322006.2:c.1780_1781delinsAG	NP_001308935.1:p.Arg594=
NM_001322008.2:c.1618_1619delinsAG	NP_001308937.1:p.Arg540=
NM_001322009.2:c.1531_1532delinsAG	NP_001308938.1:p.Arg511=
NM_001322010.2:c.1375_1376delinsAG	NP_001308939.1:p.Arg459=
NM_001322011.2:c.1003_1004delinsAG	NP_001308940.1:p.Arg335=
NM_001322012.2:c.1003_1004delinsAG	NP_001308941.1:p.Arg335=
NM_001322013.2:c.1363_1364delinsAG	NP_001308942.1:p.Arg455=
NM_001322014.2:c.1936_1937delinsAG	NP_001308943.1:p.Arg646=
NM_001322015.2:c.1627_1628delinsAG	NP_001308944.1:p.Arg543=
NM_001322007.2:c.1618_1619delinsAG	NP_001308936.1:p.Arg540=