Canonical Allele Identifier: CA2695234314

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405369del , CM000685.2:g.53405369del	GRCh38
NC_000023.10:g.53432301del , CM000685.1:g.53432301del	GRCh37
NC_000023.9:g.53449026del	NCBI36
NG_006988.2:g.22302del , LRG_773:g.22302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1934del MANE Select	ENSP00000323421.3:p.Leu645HisfsTer7
ENST00000674590.1:c.1166del	ENSP00000502626.1:p.Leu389HisfsTer7
ENST00000675065.1:n.1286del
ENST00000675504.1:c.1868del	ENSP00000502524.1:p.Leu623HisfsTer7
ENST00000322213.8:c.1934del	ENSP00000323421.3:p.Leu645HisfsTer7
ENST00000375340.10:c.1868del	ENSP00000364489.7:p.Leu623HisfsTer7
NM_001281463.1:c.1868del , LRG_773t1:c.1868del	NP_001268392.1:p.Leu623HisfsTer7
NM_006306.3:c.1934del , LRG_773t2:c.1934del	NP_006297.2:p.Leu645HisfsTer7
NM_006306.4:c.1934del MANE Select	NP_006297.2:p.Leu645HisfsTer7