Canonical Allele Identifier: CA2739273512

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2808994
• ClinVar RCV Id: RCV003625151

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409160del , CM000685.2:g.53409160del	GRCh38
NC_000023.10:g.53436091del , CM000685.1:g.53436091del	GRCh37
NC_000023.9:g.53452816del	NCBI36
NG_006988.2:g.18511del , LRG_773:g.18511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1447del MANE Select	ENSP00000323421.3:p.Gln483SerfsTer2
ENST00000674590.1:c.679del	ENSP00000502626.1:p.Gln227SerfsTer2
ENST00000675065.1:n.799del
ENST00000675504.1:c.1381del	ENSP00000502524.1:p.Gln461SerfsTer2
ENST00000322213.8:c.1447del	ENSP00000323421.3:p.Gln483SerfsTer2
ENST00000375340.10:c.1381del	ENSP00000364489.7:p.Gln461SerfsTer2
NM_001281463.1:c.1381del , LRG_773t1:c.1381del	NP_001268392.1:p.Gln461SerfsTer2
NM_006306.3:c.1447del , LRG_773t2:c.1447del	NP_006297.2:p.Gln483SerfsTer2
NM_006306.4:c.1447del MANE Select	NP_006297.2:p.Gln483SerfsTer2