Canonical Allele Identifier: CA814420817

Gene: MSH3

Linked Data

• dbSNP Id: rs1163491383
• gnomAD v3: 5-80873014-TGTACGATTTAATA-T
• gnomAD v4: 5-80873014-TGTACGATTTAATA-T
• MyVariant Identifiers: chr5:g.80168834_80168846del (hg19) ; chr5:g.80873015_80873027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873015_80873027del , CM000667.2:g.80873015_80873027del	GRCh38
NC_000005.9:g.80168834_80168846del , CM000667.1:g.80168834_80168846del	GRCh37
NC_000005.8:g.80204590_80204602del	NCBI36
NG_016607.1:g.223541_223553del
NG_016607.2:g.223541_223553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.3131-101_3131-89del MANE Select	ENSP00000265081.6:n.3131-101_3131-89del
ENST00000658259.1:c.2963-101_2963-89del	ENSP00000499617.1:n.2963-101_2963-89del
ENST00000659302.1:c.539-101_539-89del
ENST00000667069.1:c.2936-101_2936-89del	ENSP00000499502.1:n.2936-101_2936-89del
ENST00000670357.1:c.*455-101_*455-89del	ENSP00000499791.1:n.*455-101_*455-89del
ENST00000265081.6:c.3131-101_3131-89del	ENSP00000265081.6:n.3131-101_3131-89del
NM_002439.4:c.3131-101_3131-89del	NP_002430.3:n.3131-101_3131-89del
NM_002439.5:c.3131-101_3131-89del MANE Select	NP_002430.3:n.3131-101_3131-89del