Canonical Allele Identifier: CA1315746177

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784492_189784493delinsCT , CM000664.2:g.189784492_189784493delinsCT	GRCh38
NC_000002.11:g.190649218_190649219delinsCT , CM000664.1:g.190649218_190649219delinsCT	GRCh37
NC_000002.10:g.190357463_190357464delinsCT	NCBI36
NG_008648.1:g.5408_5409delinsCT , LRG_221:g.5408_5409delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-122_-121delinsCT MANE Select	ENSP00000406490.3:n.-122_-121delinsCT
ENST00000639501.1:c.-122_-121delinsCT	ENSP00000491236.1:n.-122_-121delinsCT
ENST00000342075.8:c.-122_-121delinsCT	ENSP00000343888.4:n.-122_-121delinsCT
ENST00000409985.5:c.-122_-121delinsCT	ENSP00000386623.1:n.-122_-121delinsCT
ENST00000418224.7:c.-122_-121delinsCT	ENSP00000404492.4:n.-122_-121delinsCT
ENST00000432292.7:c.-364_-363delinsCT	ENSP00000398378.3:n.-364_-363delinsCT
ENST00000441310.6:c.-122_-121delinsCT	ENSP00000406490.2:n.-122_-121delinsCT
ENST00000446877.5:c.-425_-424delinsCT	ENSP00000413837.1:n.-425_-424delinsCT
ENST00000618056.4:c.-122_-121delinsCT	ENSP00000480632.1:n.-122_-121delinsCT
ENST00000624204.3:c.-547_-546delinsCT	ENSP00000485312.1:n.-547_-546delinsCT
NM_000534.4:c.-122_-121delinsCT , LRG_221t1:c.-122_-121delinsCT	NP_000525.1:n.-122_-121delinsCT
NM_001128143.1:c.-122_-121delinsCT	NP_001121615.1:n.-122_-121delinsCT
NM_001128144.1:c.-122_-121delinsCT	NP_001121616.1:n.-122_-121delinsCT
NM_001289408.1:c.-547_-546delinsCT	NP_001276337.1:n.-547_-546delinsCT
NM_001289409.1:c.-364_-363delinsCT	NP_001276338.1:n.-364_-363delinsCT
NR_110332.1:n.408_409delinsCT
XM_005246647.2:c.-248_-247delinsCT	XP_005246704.1:n.-248_-247delinsCT
XM_005246649.2:c.-122_-121delinsCT	XP_005246706.1:n.-122_-121delinsCT
XM_011511354.1:c.-219_-218delinsCT	XP_011509656.1:n.-219_-218delinsCT
XM_011511355.1:c.-122_-121delinsCT	XP_011509657.1:n.-122_-121delinsCT
XM_011511357.1:c.-122_-121delinsCT	XP_011509659.1:n.-122_-121delinsCT
XR_922951.1:n.43_44delinsCT
NM_001321044.1:c.-122_-121delinsCT	NP_001307973.1:n.-122_-121delinsCT
NM_001321045.1:c.-248_-247delinsCT	NP_001307974.1:n.-248_-247delinsCT
NM_001321046.1:c.-122_-121delinsCT	NP_001307975.1:n.-122_-121delinsCT
NM_001321047.1:c.-299_-298delinsCT	NP_001307976.1:n.-299_-298delinsCT
NM_001321048.1:c.-219_-218delinsCT	NP_001307977.1:n.-219_-218delinsCT
NM_001321049.1:c.-122_-121delinsCT	NP_001307978.1:n.-122_-121delinsCT
NM_001321051.1:c.-122_-121delinsCT	NP_001307980.1:n.-122_-121delinsCT
XM_017004344.1:c.-248_-247delinsCT	XP_016859833.1:n.-248_-247delinsCT
XM_017004345.1:c.-143_-142delinsCT	XP_016859834.1:n.-143_-142delinsCT
XM_017004346.2:c.-93_-92delinsCT	XP_016859835.1:n.-93_-92delinsCT
XM_017004347.1:c.-122_-121delinsCT	XP_016859836.1:n.-122_-121delinsCT
XM_017004350.1:c.-122_-121delinsCT	XP_016859839.1:n.-122_-121delinsCT
XM_024452964.1:c.-143_-142delinsCT	XP_024308732.1:n.-143_-142delinsCT
XM_024452965.1:c.-93_-92delinsCT	XP_024308733.1:n.-93_-92delinsCT
XM_024452966.1:c.-143_-142delinsCT	XP_024308734.1:n.-143_-142delinsCT
XM_024452967.1:c.-93_-92delinsCT	XP_024308735.1:n.-93_-92delinsCT
XM_024452968.1:c.-518_-517delinsCT	XP_024308736.1:n.-518_-517delinsCT
XR_001738779.1:n.8_9delinsCT
XR_922951.2:n.37_38delinsCT
NM_000534.5:c.-122_-121delinsCT MANE Select	NP_000525.1:n.-122_-121delinsCT
NM_001128143.2:c.-122_-121delinsCT	NP_001121615.1:n.-122_-121delinsCT
NM_001128144.2:c.-122_-121delinsCT	NP_001121616.1:n.-122_-121delinsCT
NM_001321044.2:c.-122_-121delinsCT	NP_001307973.1:n.-122_-121delinsCT
NM_001321045.2:c.-248_-247delinsCT	NP_001307974.1:n.-248_-247delinsCT
NM_001321046.2:c.-122_-121delinsCT	NP_001307975.1:n.-122_-121delinsCT
NM_001321047.2:c.-299_-298delinsCT	NP_001307976.1:n.-299_-298delinsCT
NM_001321048.2:c.-219_-218delinsCT	NP_001307977.1:n.-219_-218delinsCT
NM_001321049.2:c.-122_-121delinsCT	NP_001307978.1:n.-122_-121delinsCT
NR_110332.2:n.43_44delinsCT
NM_001289408.2:c.-547_-546delinsCT	NP_001276337.1:n.-547_-546delinsCT
NM_001289409.2:c.-364_-363delinsCT	NP_001276338.1:n.-364_-363delinsCT
NM_001321051.2:c.-122_-121delinsCT	NP_001307980.1:n.-122_-121delinsCT