Canonical Allele Identifier: CA2429816980

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075579370
• gnomAD v4: X-53380773-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380775_53380776del , CM000685.2:g.53380775_53380776del	GRCh38
NC_000023.10:g.53407696_53407697del , CM000685.1:g.53407696_53407697del	GRCh37
NC_000023.9:g.53424421_53424422del	NCBI36
NG_006988.2:g.46896_46897del , LRG_773:g.46896_46897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3508-45_3508-44del MANE Select	ENSP00000323421.3:n.3508-45_3508-44del
ENST00000674590.1:c.2740-45_2740-44del	ENSP00000502626.1:n.2740-45_2740-44del
ENST00000675504.1:c.3442-45_3442-44del	ENSP00000502524.1:n.3442-45_3442-44del
ENST00000322213.8:c.3508-45_3508-44del	ENSP00000323421.3:n.3508-45_3508-44del
ENST00000375340.10:c.3442-45_3442-44del	ENSP00000364489.7:n.3442-45_3442-44del
ENST00000470241.2:c.728-45_728-44del
NM_001281463.1:c.3442-45_3442-44del , LRG_773t1:c.3442-45_3442-44del	NP_001268392.1:n.3442-45_3442-44del
NM_006306.3:c.3508-45_3508-44del , LRG_773t2:c.3508-45_3508-44del	NP_006297.2:n.3508-45_3508-44del
NM_006306.4:c.3508-45_3508-44del MANE Select	NP_006297.2:n.3508-45_3508-44del