Canonical Allele Identifier: CA62620545

Gene: PMS1

Linked Data

• dbSNP Id: rs766501073
• gnomAD v2: 2-190649219-TGGGTGC-T
• gnomAD v3: 2-189784493-TGGGTGC-T
• gnomAD v4: 2-189784493-TGGGTGC-T
• MyVariant Identifiers: chr2:g.190649226_190649231del (hg19) ; chr2:g.190649220_190649225del (hg19) ; chr2:g.189784500_189784505del (hg38) ; chr2:g.189784494_189784499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784509_189784514del , CM000664.2:g.189784509_189784514del	GRCh38
NC_000002.11:g.190649235_190649240del , CM000664.1:g.190649235_190649240del	GRCh37
NC_000002.10:g.190357480_190357485del	NCBI36
NG_008648.1:g.5425_5430del , LRG_221:g.5425_5430del

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-105_-100del MANE Select	ENSP00000406490.3:n.-105_-100del
ENST00000639501.1:c.-105_-100del	ENSP00000491236.1:n.-105_-100del
ENST00000342075.8:c.-105_-100del	ENSP00000343888.4:n.-105_-100del
ENST00000409985.5:c.-105_-100del	ENSP00000386623.1:n.-105_-100del
ENST00000418224.7:c.-105_-100del	ENSP00000404492.4:n.-105_-100del
ENST00000432292.7:c.-347_-342del	ENSP00000398378.3:n.-347_-342del
ENST00000441310.6:c.-105_-100del	ENSP00000406490.2:n.-105_-100del
ENST00000446877.5:c.-408_-403del	ENSP00000413837.1:n.-408_-403del
ENST00000618056.4:c.-105_-100del	ENSP00000480632.1:n.-105_-100del
ENST00000624204.3:c.-530_-525del	ENSP00000485312.1:n.-530_-525del
NM_000534.4:c.-105_-100del , LRG_221t1:c.-105_-100del	NP_000525.1:n.-105_-100del
NM_001128143.1:c.-105_-100del	NP_001121615.1:n.-105_-100del
NM_001128144.1:c.-105_-100del	NP_001121616.1:n.-105_-100del
NM_001289408.1:c.-530_-525del	NP_001276337.1:n.-530_-525del
NM_001289409.1:c.-347_-342del	NP_001276338.1:n.-347_-342del
NR_110332.1:n.425_430del
XM_005246647.2:c.-231_-226del	XP_005246704.1:n.-231_-226del
XM_005246649.2:c.-105_-100del	XP_005246706.1:n.-105_-100del
XM_011511354.1:c.-202_-197del	XP_011509656.1:n.-202_-197del
XM_011511355.1:c.-105_-100del	XP_011509657.1:n.-105_-100del
XM_011511357.1:c.-105_-100del	XP_011509659.1:n.-105_-100del
XR_922951.1:n.60_65del
NM_001321044.1:c.-105_-100del	NP_001307973.1:n.-105_-100del
NM_001321045.1:c.-231_-226del	NP_001307974.1:n.-231_-226del
NM_001321046.1:c.-105_-100del	NP_001307975.1:n.-105_-100del
NM_001321047.1:c.-282_-277del	NP_001307976.1:n.-282_-277del
NM_001321048.1:c.-202_-197del	NP_001307977.1:n.-202_-197del
NM_001321049.1:c.-105_-100del	NP_001307978.1:n.-105_-100del
NM_001321051.1:c.-105_-100del	NP_001307980.1:n.-105_-100del
XM_017004344.1:c.-231_-226del	XP_016859833.1:n.-231_-226del
XM_017004345.1:c.-126_-121del	XP_016859834.1:n.-126_-121del
XM_017004346.2:c.-76_-71del	XP_016859835.1:n.-76_-71del
XM_017004347.1:c.-105_-100del	XP_016859836.1:n.-105_-100del
XM_017004350.1:c.-105_-100del	XP_016859839.1:n.-105_-100del
XM_024452964.1:c.-126_-121del	XP_024308732.1:n.-126_-121del
XM_024452965.1:c.-76_-71del	XP_024308733.1:n.-76_-71del
XM_024452966.1:c.-126_-121del	XP_024308734.1:n.-126_-121del
XM_024452967.1:c.-76_-71del	XP_024308735.1:n.-76_-71del
XM_024452968.1:c.-501_-496del	XP_024308736.1:n.-501_-496del
XR_001738779.1:n.25_30del
XR_922951.2:n.54_59del
NM_000534.5:c.-105_-100del MANE Select	NP_000525.1:n.-105_-100del
NM_001128143.2:c.-105_-100del	NP_001121615.1:n.-105_-100del
NM_001128144.2:c.-105_-100del	NP_001121616.1:n.-105_-100del
NM_001321044.2:c.-105_-100del	NP_001307973.1:n.-105_-100del
NM_001321045.2:c.-231_-226del	NP_001307974.1:n.-231_-226del
NM_001321046.2:c.-105_-100del	NP_001307975.1:n.-105_-100del
NM_001321047.2:c.-282_-277del	NP_001307976.1:n.-282_-277del
NM_001321048.2:c.-202_-197del	NP_001307977.1:n.-202_-197del
NM_001321049.2:c.-105_-100del	NP_001307978.1:n.-105_-100del
NR_110332.2:n.60_65del
NM_001289408.2:c.-530_-525del	NP_001276337.1:n.-530_-525del
NM_001289409.2:c.-347_-342del	NP_001276338.1:n.-347_-342del
NM_001321051.2:c.-105_-100del	NP_001307980.1:n.-105_-100del