Canonical Allele Identifier: CA4195984

Gene: HOXA1

Linked Data

• dbSNP Id: rs774858049
• ExAC: 7:27135308 GGGTGGCGATGGTGGTGGT / G
• gnomAD v2: 7-27135308-GGGTGGCGATGGTGGTGGT-G
• gnomAD v3: 7-27095689-GGGTGGCGATGGTGGTGGT-G
• gnomAD v4: 7-27095689-GGGTGGCGATGGTGGTGGT-G
• MyVariant Identifiers: chr7:g.27135309_27135326del (hg19) ; chr7:g.27095690_27095707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095695_27095712del , CM000669.2:g.27095695_27095712del	GRCh38
NC_000007.13:g.27135314_27135331del , CM000669.1:g.27135314_27135331del	GRCh37
NC_000007.12:g.27101839_27101856del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.206_223del MANE Select	ENSP00000494260.2:p.His69_His74del
ENST00000343060.4:c.206_223del	ENSP00000343246.4:p.His69_His74del
ENST00000355633.5:c.206_223del	ENSP00000347851.5:p.His69_His74del
NM_005522.5:c.206_223del MANE Select	NP_005513.2:p.His69_His74del
NM_153620.3:c.206_223del	NP_705873.3:p.His69_His74del