Canonical Allele Identifier: CA538460179

Gene: PMS1

Linked Data

• dbSNP Id: rs1262945865
• gnomAD v2: 2-190649239-G-GGTGCGT
• gnomAD v3: 2-189784513-G-GGTGCGT
• gnomAD v4: 2-189784513-G-GGTGCGT
• MyVariant Identifiers: chr2:g.190649239_190649240insGTGCGT (hg19) ; chr2:g.189784513_189784514insGTGCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784514_189784515insTGCGTG , CM000664.2:g.189784514_189784515insTGCGTG	GRCh38
NC_000002.11:g.190649240_190649241insTGCGTG , CM000664.1:g.190649240_190649241insTGCGTG	GRCh37
NC_000002.10:g.190357485_190357486insTGCGTG	NCBI36
NG_008648.1:g.5430_5431insTGCGTG , LRG_221:g.5430_5431insTGCGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-100_-99insTGCGTG MANE Select	ENSP00000406490.3:n.-100_-99insTGCGTG
ENST00000639501.1:c.-100_-99insTGCGTG	ENSP00000491236.1:n.-100_-99insTGCGTG
ENST00000342075.8:c.-100_-99insTGCGTG	ENSP00000343888.4:n.-100_-99insTGCGTG
ENST00000374826.8:c.-100_-99insTGCGTG	ENSP00000363959.4:n.-100_-99insTGCGTG
ENST00000409823.7:c.-100_-99insTGCGTG	ENSP00000387125.3:n.-100_-99insTGCGTG
ENST00000409985.5:c.-100_-99insTGCGTG	ENSP00000386623.1:n.-100_-99insTGCGTG
ENST00000418224.7:c.-100_-99insTGCGTG	ENSP00000404492.4:n.-100_-99insTGCGTG
ENST00000432292.7:c.-342_-341insTGCGTG	ENSP00000398378.3:n.-342_-341insTGCGTG
ENST00000441310.6:c.-100_-99insTGCGTG	ENSP00000406490.2:n.-100_-99insTGCGTG
ENST00000446877.5:c.-403_-402insTGCGTG	ENSP00000413837.1:n.-403_-402insTGCGTG
ENST00000450931.5:c.-197_-196insTGCGTG	ENSP00000406225.1:n.-197_-196insTGCGTG
ENST00000618056.4:c.-100_-99insTGCGTG	ENSP00000480632.1:n.-100_-99insTGCGTG
ENST00000624204.3:c.-525_-524insTGCGTG	ENSP00000485312.1:n.-525_-524insTGCGTG
NM_000534.4:c.-100_-99insTGCGTG , LRG_221t1:c.-100_-99insTGCGTG	NP_000525.1:n.-100_-99insTGCGTG
NM_001128143.1:c.-100_-99insTGCGTG	NP_001121615.1:n.-100_-99insTGCGTG
NM_001128144.1:c.-100_-99insTGCGTG	NP_001121616.1:n.-100_-99insTGCGTG
NM_001289408.1:c.-525_-524insTGCGTG	NP_001276337.1:n.-525_-524insTGCGTG
NM_001289409.1:c.-342_-341insTGCGTG	NP_001276338.1:n.-342_-341insTGCGTG
NR_110332.1:n.430_431insTGCGTG
XM_005246647.2:c.-226_-225insTGCGTG	XP_005246704.1:n.-226_-225insTGCGTG
XM_005246649.2:c.-100_-99insTGCGTG	XP_005246706.1:n.-100_-99insTGCGTG
XM_011511354.1:c.-197_-196insTGCGTG	XP_011509656.1:n.-197_-196insTGCGTG
XM_011511355.1:c.-100_-99insTGCGTG	XP_011509657.1:n.-100_-99insTGCGTG
XM_011511357.1:c.-100_-99insTGCGTG	XP_011509659.1:n.-100_-99insTGCGTG
XR_922951.1:n.65_66insTGCGTG
NM_001321044.1:c.-100_-99insTGCGTG	NP_001307973.1:n.-100_-99insTGCGTG
NM_001321045.1:c.-226_-225insTGCGTG	NP_001307974.1:n.-226_-225insTGCGTG
NM_001321046.1:c.-100_-99insTGCGTG	NP_001307975.1:n.-100_-99insTGCGTG
NM_001321047.1:c.-277_-276insTGCGTG	NP_001307976.1:n.-277_-276insTGCGTG
NM_001321048.1:c.-197_-196insTGCGTG	NP_001307977.1:n.-197_-196insTGCGTG
NM_001321049.1:c.-100_-99insTGCGTG	NP_001307978.1:n.-100_-99insTGCGTG
NM_001321051.1:c.-100_-99insTGCGTG	NP_001307980.1:n.-100_-99insTGCGTG
XM_011511356.3:c.-1423_-1422insTGCGTG	XP_011509658.1:n.-1423_-1422insTGCGTG
XM_017004344.1:c.-226_-225insTGCGTG	XP_016859833.1:n.-226_-225insTGCGTG
XM_017004345.1:c.-121_-120insTGCGTG	XP_016859834.1:n.-121_-120insTGCGTG
XM_017004346.2:c.-71_-70insTGCGTG	XP_016859835.1:n.-71_-70insTGCGTG
XM_017004347.1:c.-100_-99insTGCGTG	XP_016859836.1:n.-100_-99insTGCGTG
XM_017004350.1:c.-100_-99insTGCGTG	XP_016859839.1:n.-100_-99insTGCGTG
XM_024452964.1:c.-121_-120insTGCGTG	XP_024308732.1:n.-121_-120insTGCGTG
XM_024452965.1:c.-71_-70insTGCGTG	XP_024308733.1:n.-71_-70insTGCGTG
XM_024452966.1:c.-121_-120insTGCGTG	XP_024308734.1:n.-121_-120insTGCGTG
XM_024452967.1:c.-71_-70insTGCGTG	XP_024308735.1:n.-71_-70insTGCGTG
XM_024452968.1:c.-496_-495insTGCGTG	XP_024308736.1:n.-496_-495insTGCGTG
XM_024452969.1:c.-525_-524insTGCGTG	XP_024308737.1:n.-525_-524insTGCGTG
XR_001738779.1:n.30_31insTGCGTG
XR_002959307.1:n.14_15insTGCGTG
XR_922951.2:n.59_60insTGCGTG
NM_000534.5:c.-100_-99insTGCGTG MANE Select	NP_000525.1:n.-100_-99insTGCGTG
NM_001128143.2:c.-100_-99insTGCGTG	NP_001121615.1:n.-100_-99insTGCGTG
NM_001128144.2:c.-100_-99insTGCGTG	NP_001121616.1:n.-100_-99insTGCGTG
NM_001321044.2:c.-100_-99insTGCGTG	NP_001307973.1:n.-100_-99insTGCGTG
NM_001321045.2:c.-226_-225insTGCGTG	NP_001307974.1:n.-226_-225insTGCGTG
NM_001321046.2:c.-100_-99insTGCGTG	NP_001307975.1:n.-100_-99insTGCGTG
NM_001321047.2:c.-277_-276insTGCGTG	NP_001307976.1:n.-277_-276insTGCGTG
NM_001321048.2:c.-197_-196insTGCGTG	NP_001307977.1:n.-197_-196insTGCGTG
NM_001321049.2:c.-100_-99insTGCGTG	NP_001307978.1:n.-100_-99insTGCGTG
NR_110332.2:n.65_66insTGCGTG
NM_001289408.2:c.-525_-524insTGCGTG	NP_001276337.1:n.-525_-524insTGCGTG
NM_001289409.2:c.-342_-341insTGCGTG	NP_001276338.1:n.-342_-341insTGCGTG
NM_001321051.2:c.-100_-99insTGCGTG	NP_001307980.1:n.-100_-99insTGCGTG