Canonical Allele Identifier: CA2843207930

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405581dup , CM000685.2:g.53405581dup	GRCh38
NC_000023.10:g.53432513dup , CM000685.1:g.53432513dup	GRCh37
NC_000023.9:g.53449238dup	NCBI36
NG_006988.2:g.22092dup , LRG_773:g.22092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1825dup MANE Select	ENSP00000323421.3:p.Leu609ProfsTer12
ENST00000674590.1:c.1057dup	ENSP00000502626.1:p.Leu353ProfsTer12
ENST00000675065.1:n.1177dup
ENST00000675504.1:c.1759dup	ENSP00000502524.1:p.Leu587ProfsTer12
ENST00000322213.8:c.1825dup	ENSP00000323421.3:p.Leu609ProfsTer12
ENST00000375340.10:c.1759dup	ENSP00000364489.7:p.Leu587ProfsTer12
NM_001281463.1:c.1759dup , LRG_773t1:c.1759dup	NP_001268392.1:p.Leu587ProfsTer12
NM_006306.3:c.1825dup , LRG_773t2:c.1825dup	NP_006297.2:p.Leu609ProfsTer12
NM_006306.4:c.1825dup MANE Select	NP_006297.2:p.Leu609ProfsTer12