Canonical Allele Identifier: CA2610887385

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573579-T-TGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573579_110573580insGTC , CM000672.2:g.110573579_110573580insGTC	GRCh38
NC_000010.10:g.112333337_112333338insGTC , CM000672.1:g.112333337_112333338insGTC	GRCh37
NC_000010.9:g.112323327_112323328insGTC	NCBI36
NG_012217.1:g.10889_10890insGTC , LRG_774:g.10889_10890insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-128_225-127insGTC
ENST00000687823.1:n.45-1757_45-1756insGTC
ENST00000689932.1:n.437_438insGTC
ENST00000691297.1:n.225-128_225-127insGTC
ENST00000691527.1:n.182-128_182-127insGTC
ENST00000692792.1:n.211-128_211-127insGTC
ENST00000361804.5:c.92-128_92-127insGTC MANE Select	ENSP00000354720.5:n.92-128_92-127insGTC
ENST00000361804.4:c.92-128_92-127insGTC	ENSP00000354720.4:n.92-128_92-127insGTC
ENST00000462899.1:n.238-128_238-127insGTC
NM_005445.3:c.92-128_92-127insGTC , LRG_774t1:c.92-128_92-127insGTC	NP_005436.1:n.92-128_92-127insGTC
NM_005445.4:c.92-128_92-127insGTC MANE Select	NP_005436.1:n.92-128_92-127insGTC