Canonical Allele Identifier: CA277080

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 212266
• ClinVar RCV Id: RCV000193116
• dbSNP Id: rs797045992
• MyVariant Identifiers: chrX:g.53432187_53432189del (hg19) ; chrX:g.53405255_53405257del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405255_53405257del , CM000685.2:g.53405255_53405257del	GRCh38
NC_000023.10:g.53432187_53432189del , CM000685.1:g.53432187_53432189del	GRCh37
NC_000023.9:g.53448912_53448914del	NCBI36
NG_006988.2:g.22414_22416del , LRG_773:g.22414_22416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.2046_2048del MANE Select	ENSP00000323421.3:p.Glu683del
ENST00000674590.1:c.1278_1280del	ENSP00000502626.1:p.Glu427del
ENST00000675065.1:n.1398_1400del
ENST00000675504.1:c.1980_1982del	ENSP00000502524.1:p.Glu661del
ENST00000322213.8:c.2046_2048del	ENSP00000323421.3:p.Glu683del
ENST00000375340.10:c.1980_1982del	ENSP00000364489.7:p.Glu661del
NM_001281463.1:c.1980_1982del , LRG_773t1:c.1980_1982del	NP_001268392.1:p.Glu661del
NM_006306.3:c.2046_2048del , LRG_773t2:c.2046_2048del	NP_006297.2:p.Glu683del
NM_006306.4:c.2046_2048del MANE Select	NP_006297.2:p.Glu683del