Canonical Allele Identifier: CA4195989
Gene: HOXA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369584
ClinVar RCV Id: RCV000339913
dbSNP Id: rs368428758

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095695_27095697del , CM000669.2:g.27095695_27095697del GRCh38
NC_000007.13:g.27135314_27135316del , CM000669.1:g.27135314_27135316del GRCh37
NC_000007.12:g.27101839_27101841del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.216_218del MANE Select ENSP00000494260.2:p.Arg73del
ENST00000343060.4:c.216_218del ENSP00000343246.4:p.Arg73del
ENST00000355633.5:c.216_218del ENSP00000347851.5:p.Arg73del
NM_005522.5:c.216_218del MANE Select NP_005513.2:p.Arg73del
NM_153620.3:c.216_218del NP_705873.3:p.Arg73del