Canonical Allele Identifier: CA2697553121
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2766620
ClinVar RCV Id: RCV003512631
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405310_53405316del , CM000685.2:g.53405310_53405316del GRCh38
NC_000023.10:g.53432242_53432248del , CM000685.1:g.53432242_53432248del GRCh37
NC_000023.9:g.53448967_53448973del NCBI36
NG_006988.2:g.22357_22363del , LRG_773:g.22357_22363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1989_1995del MANE Select ENSP00000323421.3:p.Arg664GlyfsTer6
ENST00000674590.1:c.1221_1227del ENSP00000502626.1:p.Arg408GlyfsTer6
ENST00000675065.1:n.1341_1347del
ENST00000675504.1:c.1923_1929del ENSP00000502524.1:p.Arg642GlyfsTer6
ENST00000322213.8:c.1989_1995del ENSP00000323421.3:p.Arg664GlyfsTer6
ENST00000375340.10:c.1923_1929del ENSP00000364489.7:p.Arg642GlyfsTer6
NM_001281463.1:c.1923_1929del , LRG_773t1:c.1923_1929del NP_001268392.1:p.Arg642GlyfsTer6
NM_006306.3:c.1989_1995del , LRG_773t2:c.1989_1995del NP_006297.2:p.Arg664GlyfsTer6
NM_006306.4:c.1989_1995del MANE Select NP_006297.2:p.Arg664GlyfsTer6
Search 100 bp 5'
Search 100 bp 3'