Canonical Allele Identifier: CA2662343408

Gene: PMS1

Linked Data

• gnomAD v4: 2-189784424-CGTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784425_189784428del , CM000664.2:g.189784425_189784428del	GRCh38
NC_000002.11:g.190649151_190649154del , CM000664.1:g.190649151_190649154del	GRCh37
NC_000002.10:g.190357396_190357399del	NCBI36
NG_008648.1:g.5341_5344del , LRG_221:g.5341_5344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-189_-186del	ENSP00000491236.1:n.-189_-186del
ENST00000418224.7:c.-189_-186del	ENSP00000404492.4:n.-189_-186del
ENST00000432292.7:c.-431_-428del	ENSP00000398378.3:n.-431_-428del
ENST00000441310.6:c.-189_-186del	ENSP00000406490.2:n.-189_-186del
ENST00000618056.4:c.-189_-186del	ENSP00000480632.1:n.-189_-186del
ENST00000624204.3:c.-614_-611del	ENSP00000485312.1:n.-614_-611del
NM_000534.4:c.-189_-186del , LRG_221t1:c.-189_-186del	NP_000525.1:n.-189_-186del
NM_001128143.1:c.-189_-186del	NP_001121615.1:n.-189_-186del
NM_001128144.1:c.-189_-186del	NP_001121616.1:n.-189_-186del
NM_001289408.1:c.-614_-611del	NP_001276337.1:n.-614_-611del
NM_001289409.1:c.-431_-428del	NP_001276338.1:n.-431_-428del
NR_110332.1:n.341_344del
NM_001321044.1:c.-189_-186del	NP_001307973.1:n.-189_-186del
NM_001321045.1:c.-315_-312del	NP_001307974.1:n.-315_-312del
NM_001321046.1:c.-189_-186del	NP_001307975.1:n.-189_-186del
NM_001321047.1:c.-366_-363del	NP_001307976.1:n.-366_-363del
NM_001321048.1:c.-286_-283del	NP_001307977.1:n.-286_-283del
NM_001321049.1:c.-189_-186del	NP_001307978.1:n.-189_-186del
NM_001321051.1:c.-189_-186del	NP_001307980.1:n.-189_-186del
XM_024452965.1:c.-160_-157del	XP_024308733.1:n.-160_-157del