Canonical Allele Identifier: CA2843207941

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409180dup , CM000685.2:g.53409180dup	GRCh38
NC_000023.10:g.53436111dup , CM000685.1:g.53436111dup	GRCh37
NC_000023.9:g.53452836dup	NCBI36
NG_006988.2:g.18491dup , LRG_773:g.18491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1427dup MANE Select	ENSP00000323421.3:p.Leu477AlafsTer?
ENST00000674590.1:c.659dup	ENSP00000502626.1:p.Leu221AlafsTer?
ENST00000675065.1:n.779dup
ENST00000675504.1:c.1361dup	ENSP00000502524.1:p.Leu455AlafsTer?
ENST00000322213.8:c.1427dup	ENSP00000323421.3:p.Leu477AlafsTer?
ENST00000375340.10:c.1361dup	ENSP00000364489.7:p.Leu455AlafsTer?
NM_001281463.1:c.1361dup , LRG_773t1:c.1361dup	NP_001268392.1:p.Leu455AlafsTer?
NM_006306.3:c.1427dup , LRG_773t2:c.1427dup	NP_006297.2:p.Leu477AlafsTer?
NM_006306.4:c.1427dup MANE Select	NP_006297.2:p.Leu477AlafsTer?