Canonical Allele Identifier: CA213231012

Gene: SMC3

Linked Data

• dbSNP Id: rs545442750
• gnomAD v2: 10-112341572-AAAT-A
• gnomAD v3: 10-110581814-AAAT-A
• gnomAD v4: 10-110581814-AAAT-A
• MyVariant Identifiers: chr10:g.112341573_112341575del (hg19) ; chr10:g.110581815_110581817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581818_110581820del , CM000672.2:g.110581818_110581820del	GRCh38
NC_000010.10:g.112341576_112341578del , CM000672.1:g.112341576_112341578del	GRCh37
NC_000010.9:g.112331566_112331568del	NCBI36
NG_012217.1:g.19128_19130del , LRG_774:g.19128_19130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.681-105_681-103del
ENST00000687823.1:n.462-105_462-103del
ENST00000689932.1:n.2611-105_2611-103del
ENST00000691297.1:n.681-105_681-103del
ENST00000691527.1:n.1351-105_1351-103del
ENST00000692792.1:n.667-105_667-103del
ENST00000361804.5:c.548-105_548-103del MANE Select	ENSP00000354720.5:n.548-105_548-103del
ENST00000361804.4:c.548-105_548-103del	ENSP00000354720.4:n.548-105_548-103del
ENST00000462899.1:n.694-105_694-103del
NM_005445.3:c.548-105_548-103del , LRG_774t1:c.548-105_548-103del	NP_005436.1:n.548-105_548-103del
NM_005445.4:c.548-105_548-103del MANE Select	NP_005436.1:n.548-105_548-103del