Canonical Allele Identifier: CA2701277931

Gene: PMS1

Linked Data

• dbSNP Id: rs2106170414

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784426_189784434del , CM000664.2:g.189784426_189784434del	GRCh38
NC_000002.11:g.190649152_190649160del , CM000664.1:g.190649152_190649160del	GRCh37
NC_000002.10:g.190357397_190357405del	NCBI36
NG_008648.1:g.5342_5350del , LRG_221:g.5342_5350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-188_-180del	ENSP00000491236.1:n.-188_-180del
ENST00000418224.7:c.-188_-180del	ENSP00000404492.4:n.-188_-180del
ENST00000432292.7:c.-430_-422del	ENSP00000398378.3:n.-430_-422del
ENST00000441310.6:c.-188_-180del	ENSP00000406490.2:n.-188_-180del
ENST00000618056.4:c.-188_-180del	ENSP00000480632.1:n.-188_-180del
ENST00000624204.3:c.-613_-605del	ENSP00000485312.1:n.-613_-605del
NM_000534.4:c.-188_-180del , LRG_221t1:c.-188_-180del	NP_000525.1:n.-188_-180del
NM_001128143.1:c.-188_-180del	NP_001121615.1:n.-188_-180del
NM_001128144.1:c.-188_-180del	NP_001121616.1:n.-188_-180del
NM_001289408.1:c.-613_-605del	NP_001276337.1:n.-613_-605del
NM_001289409.1:c.-430_-422del	NP_001276338.1:n.-430_-422del
NR_110332.1:n.342_350del
NM_001321044.1:c.-188_-180del	NP_001307973.1:n.-188_-180del
NM_001321045.1:c.-314_-306del	NP_001307974.1:n.-314_-306del
NM_001321046.1:c.-188_-180del	NP_001307975.1:n.-188_-180del
NM_001321047.1:c.-365_-357del	NP_001307976.1:n.-365_-357del
NM_001321048.1:c.-285_-277del	NP_001307977.1:n.-285_-277del
NM_001321049.1:c.-188_-180del	NP_001307978.1:n.-188_-180del
NM_001321051.1:c.-188_-180del	NP_001307980.1:n.-188_-180del
XM_024452965.1:c.-159_-151del	XP_024308733.1:n.-159_-151del