Canonical Allele Identifier: CA2497305423
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1860992091

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578777_110578780del , CM000672.2:g.110578777_110578780del GRCh38
NC_000010.10:g.112338535_112338538del , CM000672.1:g.112338535_112338538del GRCh37
NC_000010.9:g.112328525_112328528del NCBI36
NG_012217.1:g.16087_16090del , LRG_774:g.16087_16090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.562+71_562+74del
ENST00000687823.1:n.343+71_343+74del
ENST00000689932.1:n.2492+71_2492+74del
ENST00000691297.1:n.562+71_562+74del
ENST00000691527.1:n.1232+71_1232+74del
ENST00000692792.1:n.548+71_548+74del
ENST00000361804.5:c.429+71_429+74del MANE Select ENSP00000354720.5:n.429+71_429+74del
ENST00000361804.4:c.429+71_429+74del ENSP00000354720.4:n.429+71_429+74del
ENST00000462899.1:n.575+71_575+74del
NM_005445.3:c.429+71_429+74del , LRG_774t1:c.429+71_429+74del NP_005436.1:n.429+71_429+74del
NM_005445.4:c.429+71_429+74del MANE Select NP_005436.1:n.429+71_429+74del