Canonical Allele Identifier: CA2693805229

Gene: SMC1A

Linked Data

• gnomAD v4: X-53405216-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405217del , CM000685.2:g.53405217del	GRCh38
NC_000023.10:g.53432149del , CM000685.1:g.53432149del	GRCh37
NC_000023.9:g.53448874del	NCBI36
NG_006988.2:g.22454del , LRG_773:g.22454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2058+28del MANE Select	ENSP00000323421.3:n.2058+28del
ENST00000674590.1:c.1290+28del	ENSP00000502626.1:n.1290+28del
ENST00000675065.1:n.1410+28del
ENST00000675504.1:c.1992+28del	ENSP00000502524.1:n.1992+28del
ENST00000322213.8:c.2058+28del	ENSP00000323421.3:n.2058+28del
ENST00000375340.10:c.1992+28del	ENSP00000364489.7:n.1992+28del
NM_001281463.1:c.1992+28del , LRG_773t1:c.1992+28del	NP_001268392.1:n.1992+28del
NM_006306.3:c.2058+28del , LRG_773t2:c.2058+28del	NP_006297.2:n.2058+28del
NM_006306.4:c.2058+28del MANE Select	NP_006297.2:n.2058+28del