Canonical Allele Identifier: CA2037230500

Linked Data

dbSNP Id: rs1939715936

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000626del , CM000674.2:g.54000626del GRCh38
NC_000012.11:g.54394410del , CM000674.1:g.54394410del GRCh37
NC_000012.10:g.52680677del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303450.5:c.438del (HOXC9) MANE Select ENSP00000302836.4:p.Glu148SerfsTer?
ENST00000303450.4:c.438del (HOXC9) ENSP00000302836.4:p.Glu148SerfsTer?
ENST00000504315.1:c.-193+9812del (HOXC6) ENSP00000424124.1:n.-193+9812del
ENST00000504557.1:n.123-1804del (HOXC9)
ENST00000508190.1:c.438del (HOXC9) ENSP00000423861.1:p.Glu148SerfsTer?
ENST00000509328.1:c.-73+5610del (HOXC6) ENSP00000423898.1:n.-73+5610del
ENST00000513209.1:c.166+14616del ENSP00000476742.1:n.166+14616del
NM_006897.1:c.438del (HOXC9) NP_008828.1:p.Glu148SerfsTer?
NM_006897.2:c.438del (HOXC9) NP_008828.1:p.Glu148SerfsTer?
NM_006897.3:c.438del (HOXC9) MANE Select NP_008828.1:p.Glu148SerfsTer?