Canonical Allele Identifier: CA762318188

Gene: PMS1

Linked Data

• dbSNP Id: rs1456601590
• gnomAD v3: 2-189784433-CGGG-C
• gnomAD v4: 2-189784433-CGGG-C
• MyVariant Identifiers: chr2:g.190649160_190649162del (hg19) ; chr2:g.189784434_189784436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784434_189784436del , CM000664.2:g.189784434_189784436del	GRCh38
NC_000002.11:g.190649160_190649162del , CM000664.1:g.190649160_190649162del	GRCh37
NC_000002.10:g.190357405_190357407del	NCBI36
NG_008648.1:g.5350_5352del , LRG_221:g.5350_5352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-180_-178del	ENSP00000491236.1:n.-180_-178del
ENST00000418224.7:c.-180_-178del	ENSP00000404492.4:n.-180_-178del
ENST00000432292.7:c.-422_-420del	ENSP00000398378.3:n.-422_-420del
ENST00000441310.6:c.-180_-178del	ENSP00000406490.2:n.-180_-178del
ENST00000618056.4:c.-180_-178del	ENSP00000480632.1:n.-180_-178del
ENST00000624204.3:c.-605_-603del	ENSP00000485312.1:n.-605_-603del
NM_000534.4:c.-180_-178del , LRG_221t1:c.-180_-178del	NP_000525.1:n.-180_-178del
NM_001128143.1:c.-180_-178del	NP_001121615.1:n.-180_-178del
NM_001128144.1:c.-180_-178del	NP_001121616.1:n.-180_-178del
NM_001289408.1:c.-605_-603del	NP_001276337.1:n.-605_-603del
NM_001289409.1:c.-422_-420del	NP_001276338.1:n.-422_-420del
NR_110332.1:n.350_352del
NM_001321044.1:c.-180_-178del	NP_001307973.1:n.-180_-178del
NM_001321045.1:c.-306_-304del	NP_001307974.1:n.-306_-304del
NM_001321046.1:c.-180_-178del	NP_001307975.1:n.-180_-178del
NM_001321047.1:c.-357_-355del	NP_001307976.1:n.-357_-355del
NM_001321048.1:c.-277_-275del	NP_001307977.1:n.-277_-275del
NM_001321049.1:c.-180_-178del	NP_001307978.1:n.-180_-178del
NM_001321051.1:c.-180_-178del	NP_001307980.1:n.-180_-178del
XM_024452965.1:c.-151_-149del	XP_024308733.1:n.-151_-149del