Canonical Allele Identifier: CA2693805225

Gene: SMC1A

Linked Data

• gnomAD v4: X-53405197-CTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405198_53405200del , CM000685.2:g.53405198_53405200del	GRCh38
NC_000023.10:g.53432130_53432132del , CM000685.1:g.53432130_53432132del	GRCh37
NC_000023.9:g.53448855_53448857del	NCBI36
NG_006988.2:g.22471_22473del , LRG_773:g.22471_22473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2058+45_2058+47del MANE Select	ENSP00000323421.3:n.2058+45_2058+47del
ENST00000674590.1:c.1290+45_1290+47del	ENSP00000502626.1:n.1290+45_1290+47del
ENST00000675065.1:n.1410+45_1410+47del
ENST00000675504.1:c.1992+45_1992+47del	ENSP00000502524.1:n.1992+45_1992+47del
ENST00000322213.8:c.2058+45_2058+47del	ENSP00000323421.3:n.2058+45_2058+47del
ENST00000375340.10:c.1992+45_1992+47del	ENSP00000364489.7:n.1992+45_1992+47del
NM_001281463.1:c.1992+45_1992+47del , LRG_773t1:c.1992+45_1992+47del	NP_001268392.1:n.1992+45_1992+47del
NM_006306.3:c.2058+45_2058+47del , LRG_773t2:c.2058+45_2058+47del	NP_006297.2:n.2058+45_2058+47del
NM_006306.4:c.2058+45_2058+47del MANE Select	NP_006297.2:n.2058+45_2058+47del