Canonical Allele Identifier: CA2820946892

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405637dup , CM000685.2:g.53405637dup	GRCh38
NC_000023.10:g.53432569dup , CM000685.1:g.53432569dup	GRCh37
NC_000023.9:g.53449294dup	NCBI36
NG_006988.2:g.22038dup , LRG_773:g.22038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1771dup MANE Select	ENSP00000323421.3:p.Ala591GlyfsTer6
ENST00000674590.1:c.1003dup	ENSP00000502626.1:p.Ala335GlyfsTer6
ENST00000675065.1:n.1123dup
ENST00000675504.1:c.1705dup	ENSP00000502524.1:p.Ala569GlyfsTer6
ENST00000322213.8:c.1771dup	ENSP00000323421.3:p.Ala591GlyfsTer6
ENST00000375340.10:c.1705dup	ENSP00000364489.7:p.Ala569GlyfsTer6
NM_001281463.1:c.1705dup , LRG_773t1:c.1705dup	NP_001268392.1:p.Ala569GlyfsTer6
NM_006306.3:c.1771dup , LRG_773t2:c.1771dup	NP_006297.2:p.Ala591GlyfsTer6
NM_006306.4:c.1771dup MANE Select	NP_006297.2:p.Ala591GlyfsTer6