Canonical Allele Identifier: CA2695234315

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405497_53405504del , CM000685.2:g.53405497_53405504del	GRCh38
NC_000023.10:g.53432429_53432436del , CM000685.1:g.53432429_53432436del	GRCh37
NC_000023.9:g.53449154_53449161del	NCBI36
NG_006988.2:g.22169_22176del , LRG_773:g.22169_22176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1902_1909del MANE Select	ENSP00000323421.3:p.Arg635AspfsTer21
ENST00000674590.1:c.1134_1141del	ENSP00000502626.1:p.Arg379AspfsTer21
ENST00000675065.1:n.1254_1261del
ENST00000675504.1:c.1836_1843del	ENSP00000502524.1:p.Arg613AspfsTer21
ENST00000322213.8:c.1902_1909del	ENSP00000323421.3:p.Arg635AspfsTer21
ENST00000375340.10:c.1836_1843del	ENSP00000364489.7:p.Arg613AspfsTer21
NM_001281463.1:c.1836_1843del , LRG_773t1:c.1836_1843del	NP_001268392.1:p.Arg613AspfsTer21
NM_006306.3:c.1902_1909del , LRG_773t2:c.1902_1909del	NP_006297.2:p.Arg635AspfsTer21
NM_006306.4:c.1902_1909del MANE Select	NP_006297.2:p.Arg635AspfsTer21