Canonical Allele Identifier: CA4195982

Gene: HOXA1

Linked Data

• ClinVar Variation Id: 1205948
• ClinVar RCV Id: RCV001572891 ; RCV001726588
• dbSNP Id: rs544314279
• ExAC: 7:27135308 GGGTGGCGAT / G
• gnomAD v2: 7-27135308-GGGTGGCGAT-G
• gnomAD v3: 7-27095689-GGGTGGCGAT-G
• gnomAD v4: 7-27095689-GGGTGGCGAT-G
• COSMIC: COSM3027056
• MyVariant Identifiers: chr7:g.27135312_27135320del (hg19) ; chr7:g.27135309_27135317del (hg19) ; chr7:g.27135314_27135326delinsTGGT (hg19) ; chr7:g.27095693_27095701del (hg38) ; chr7:g.27095690_27095698del (hg38) ; chr7:g.27095695_27095707delinsTGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095695_27095703del , CM000669.2:g.27095695_27095703del	GRCh38
NC_000007.13:g.27135314_27135322del , CM000669.1:g.27135314_27135322del	GRCh37
NC_000007.12:g.27101839_27101847del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.215_223del MANE Select	ENSP00000494260.2:p.His72_His74del
ENST00000343060.4:c.215_223del	ENSP00000343246.4:p.His72_His74del
ENST00000355633.5:c.215_223del	ENSP00000347851.5:p.His72_His74del
NM_005522.5:c.215_223del MANE Select	NP_005513.2:p.His72_His74del
NM_153620.3:c.215_223del	NP_705873.3:p.His72_His74del