Canonical Allele Identifier: CA2832528686

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409090_53409096dup , CM000685.2:g.53409090_53409096dup	GRCh38
NC_000023.10:g.53436021_53436027dup , CM000685.1:g.53436021_53436027dup	GRCh37
NC_000023.9:g.53452746_53452752dup	NCBI36
NG_006988.2:g.18575_18581dup , LRG_773:g.18575_18581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1511_1517dup MANE Select	ENSP00000323421.3:p.Ile507GlyfsTer17
ENST00000674590.1:c.743_749dup	ENSP00000502626.1:p.Ile251GlyfsTer17
ENST00000675065.1:n.863_869dup
ENST00000675504.1:c.1445_1451dup	ENSP00000502524.1:p.Ile485GlyfsTer17
ENST00000322213.8:c.1511_1517dup	ENSP00000323421.3:p.Ile507GlyfsTer17
ENST00000375340.10:c.1445_1451dup	ENSP00000364489.7:p.Ile485GlyfsTer17
NM_001281463.1:c.1445_1451dup , LRG_773t1:c.1445_1451dup	NP_001268392.1:p.Ile485GlyfsTer17
NM_006306.3:c.1511_1517dup , LRG_773t2:c.1511_1517dup	NP_006297.2:p.Ile507GlyfsTer17
NM_006306.4:c.1511_1517dup MANE Select	NP_006297.2:p.Ile507GlyfsTer17