Canonical Allele Identifier: CA5687630

Gene: SMC3

Linked Data

• dbSNP Id: rs751834053
• ExAC: 10:112333545 G / GTATC
• gnomAD v2: 10-112333545-G-GTATC
• gnomAD v4: 10-110573787-G-GTATC
• MyVariant Identifiers: chr10:g.112333545_112333546insTATC (hg19) ; chr10:g.110573787_110573788insTATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573789_110573792dup , CM000672.2:g.110573789_110573792dup	GRCh38
NC_000010.10:g.112333547_112333550dup , CM000672.1:g.112333547_112333550dup	GRCh37
NC_000010.9:g.112323537_112323540dup	NCBI36
NG_012217.1:g.11099_11102dup , LRG_774:g.11099_11102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+44_263+47dup
ENST00000687823.1:n.45-1547_45-1544dup
ENST00000689932.1:n.647_650dup
ENST00000691297.1:n.263+44_263+47dup
ENST00000691527.1:n.220+44_220+47dup
ENST00000692792.1:n.249+44_249+47dup
ENST00000361804.5:c.130+44_130+47dup MANE Select	ENSP00000354720.5:n.130+44_130+47dup
ENST00000361804.4:c.130+44_130+47dup	ENSP00000354720.4:n.130+44_130+47dup
ENST00000462899.1:n.276+44_276+47dup
NM_005445.3:c.130+44_130+47dup , LRG_774t1:c.130+44_130+47dup	NP_005436.1:n.130+44_130+47dup
NM_005445.4:c.130+44_130+47dup MANE Select	NP_005436.1:n.130+44_130+47dup