Canonical Allele Identifier: CA1139667584

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 973949
• ClinVar RCV Id: RCV001250669
• dbSNP Id: rs2075702300

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409261_53409267del , CM000685.2:g.53409261_53409267del	GRCh38
NC_000023.10:g.53436192_53436198del , CM000685.1:g.53436192_53436198del	GRCh37
NC_000023.9:g.53452917_53452923del	NCBI36
NG_006988.2:g.18406_18412del , LRG_773:g.18406_18412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1342_1348del MANE Select	ENSP00000323421.3:p.Ser448LysfsTer6
ENST00000674590.1:c.574_580del	ENSP00000502626.1:p.Ser192LysfsTer6
ENST00000675065.1:n.694_700del
ENST00000675504.1:c.1276_1282del	ENSP00000502524.1:p.Ser426LysfsTer6
ENST00000322213.8:c.1342_1348del	ENSP00000323421.3:p.Ser448LysfsTer6
ENST00000375340.10:c.1276_1282del	ENSP00000364489.7:p.Ser426LysfsTer6
NM_001281463.1:c.1276_1282del , LRG_773t1:c.1276_1282del	NP_001268392.1:p.Ser426LysfsTer6
NM_006306.3:c.1342_1348del , LRG_773t2:c.1342_1348del	NP_006297.2:p.Ser448LysfsTer6
NM_006306.4:c.1342_1348del MANE Select	NP_006297.2:p.Ser448LysfsTer6