Canonical Allele Identifier: CA2580612341

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1184942
• ClinVar RCV Id: RCV001543538
• dbSNP Id: rs2146599783

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405592_53405593del , CM000685.2:g.53405592_53405593del	GRCh38
NC_000023.10:g.53432524_53432525del , CM000685.1:g.53432524_53432525del	GRCh37
NC_000023.9:g.53449249_53449250del	NCBI36
NG_006988.2:g.22080_22081del , LRG_773:g.22080_22081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1813_1814del MANE Select	ENSP00000323421.3:p.Ile605GlnfsTer15
ENST00000674590.1:c.1045_1046del	ENSP00000502626.1:p.Ile349GlnfsTer15
ENST00000675065.1:n.1165_1166del
ENST00000675504.1:c.1747_1748del	ENSP00000502524.1:p.Ile583GlnfsTer15
ENST00000322213.8:c.1813_1814del	ENSP00000323421.3:p.Ile605GlnfsTer15
ENST00000375340.10:c.1747_1748del	ENSP00000364489.7:p.Ile583GlnfsTer15
NM_001281463.1:c.1747_1748del , LRG_773t1:c.1747_1748del	NP_001268392.1:p.Ile583GlnfsTer15
NM_006306.3:c.1813_1814del , LRG_773t2:c.1813_1814del	NP_006297.2:p.Ile605GlnfsTer15
NM_006306.4:c.1813_1814del MANE Select	NP_006297.2:p.Ile605GlnfsTer15