Canonical Allele Identifier: CA2695234316

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405659_53405671del , CM000685.2:g.53405659_53405671del	GRCh38
NC_000023.10:g.53432591_53432603del , CM000685.1:g.53432591_53432603del	GRCh37
NC_000023.9:g.53449316_53449328del	NCBI36
NG_006988.2:g.22003_22015del , LRG_773:g.22003_22015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1736_1748del MANE Select	ENSP00000323421.3:p.Lys579ArgfsTer6
ENST00000674590.1:c.968_980del	ENSP00000502626.1:p.Lys323ArgfsTer6
ENST00000675065.1:n.1088_1100del
ENST00000675504.1:c.1670_1682del	ENSP00000502524.1:p.Lys557ArgfsTer6
ENST00000322213.8:c.1736_1748del	ENSP00000323421.3:p.Lys579ArgfsTer6
ENST00000375340.10:c.1670_1682del	ENSP00000364489.7:p.Lys557ArgfsTer6
NM_001281463.1:c.1670_1682del , LRG_773t1:c.1670_1682del	NP_001268392.1:p.Lys557ArgfsTer6
NM_006306.3:c.1736_1748del , LRG_773t2:c.1736_1748del	NP_006297.2:p.Lys579ArgfsTer6
NM_006306.4:c.1736_1748del MANE Select	NP_006297.2:p.Lys579ArgfsTer6