Canonical Allele Identifier: CA2579615489

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380692del , CM000685.2:g.53380692del	GRCh38
NC_000023.10:g.53407613del , CM000685.1:g.53407613del	GRCh37
NC_000023.9:g.53424338del	NCBI36
NG_006988.2:g.46980del , LRG_773:g.46980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3547del MANE Select	ENSP00000323421.3:p.Gln1183ArgfsTer29
ENST00000674590.1:c.2779del	ENSP00000502626.1:p.Gln927ArgfsTer29
ENST00000675504.1:c.3481del	ENSP00000502524.1:p.Gln1161ArgfsTer29
ENST00000322213.8:c.3547del	ENSP00000323421.3:p.Gln1183ArgfsTer29
ENST00000375340.10:c.3481del	ENSP00000364489.7:p.Gln1161ArgfsTer29
ENST00000470241.2:c.767del
NM_001281463.1:c.3481del , LRG_773t1:c.3481del	NP_001268392.1:p.Gln1161ArgfsTer29
NM_006306.3:c.3547del , LRG_773t2:c.3547del	NP_006297.2:p.Gln1183ArgfsTer29
NM_006306.4:c.3547del MANE Select	NP_006297.2:p.Gln1183ArgfsTer29