Canonical Allele Identifier: CA2693803832

Gene: SMC1A

Linked Data

• gnomAD v4: X-53382498-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382499del , CM000685.2:g.53382499del	GRCh38
NC_000023.10:g.53409420del , CM000685.1:g.53409420del	GRCh37
NC_000023.9:g.53426145del	NCBI36
NG_006988.2:g.45172del , LRG_773:g.45172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3285+7del MANE Select	ENSP00000323421.3:n.3285+7del
ENST00000674590.1:c.2517+7del	ENSP00000502626.1:n.2517+7del
ENST00000675504.1:c.3219+7del	ENSP00000502524.1:n.3219+7del
ENST00000322213.8:c.3285+7del	ENSP00000323421.3:n.3285+7del
ENST00000375340.10:c.3219+7del	ENSP00000364489.7:n.3219+7del
ENST00000469129.1:n.141+7del
ENST00000470241.2:c.575+7del
NM_001281463.1:c.3219+7del , LRG_773t1:c.3219+7del	NP_001268392.1:n.3219+7del
NM_006306.3:c.3285+7del , LRG_773t2:c.3285+7del	NP_006297.2:n.3285+7del
NM_006306.4:c.3285+7del MANE Select	NP_006297.2:n.3285+7del