Canonical Allele Identifier: CA2579615578

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382380del , CM000685.2:g.53382380del	GRCh38
NC_000023.10:g.53409301del , CM000685.1:g.53409301del	GRCh37
NC_000023.9:g.53426026del	NCBI36
NG_006988.2:g.45292del , LRG_773:g.45292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3290del MANE Select	ENSP00000323421.3:p.Phe1097SerfsTer?
ENST00000674590.1:c.2522del	ENSP00000502626.1:p.Phe841SerfsTer?
ENST00000675504.1:c.3224del	ENSP00000502524.1:p.Phe1075SerfsTer?
ENST00000322213.8:c.3290del	ENSP00000323421.3:p.Phe1097SerfsTer?
ENST00000375340.10:c.3224del	ENSP00000364489.7:p.Phe1075SerfsTer?
ENST00000469129.1:n.146del
ENST00000470241.2:c.580del
NM_001281463.1:c.3224del , LRG_773t1:c.3224del	NP_001268392.1:p.Phe1075SerfsTer?
NM_006306.3:c.3290del , LRG_773t2:c.3290del	NP_006297.2:p.Phe1097SerfsTer?
NM_006306.4:c.3290del MANE Select	NP_006297.2:p.Phe1097SerfsTer?