Canonical Allele Identifier: CA2520785106

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409264del , CM000685.2:g.53409264del	GRCh38
NC_000023.10:g.53436195del , CM000685.1:g.53436195del	GRCh37
NC_000023.9:g.53452920del	NCBI36
NG_006988.2:g.18409del , LRG_773:g.18409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1345del MANE Select	ENSP00000323421.3:p.Leu449Ter
ENST00000674590.1:c.577del	ENSP00000502626.1:p.Leu193Ter
ENST00000675065.1:n.697del
ENST00000675504.1:c.1279del	ENSP00000502524.1:p.Leu427Ter
ENST00000322213.8:c.1345del	ENSP00000323421.3:p.Leu449Ter
ENST00000375340.10:c.1279del	ENSP00000364489.7:p.Leu427Ter
NM_001281463.1:c.1279del , LRG_773t1:c.1279del	NP_001268392.1:p.Leu427Ter
NM_006306.3:c.1345del , LRG_773t2:c.1345del	NP_006297.2:p.Leu449Ter
NM_006306.4:c.1345del MANE Select	NP_006297.2:p.Leu449Ter