Canonical Allele Identifier: CA4195985

Gene: HOXA1

Linked Data

• dbSNP Id: rs544314279
• ExAC: 7:27135308 G / GGGTGGCGAT
• gnomAD v4: 7-27095689-G-GGGTGGCGAT
• MyVariant Identifiers: chr7:g.27135323_27135326delinsCGATGGTGGTGGT (hg19) ; chr7:g.27135308_27135309insGGTGGCGAT (hg19) ; chr7:g.27095689_27095690insGGTGGCGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095695_27095703dup , CM000669.2:g.27095695_27095703dup	GRCh38
NC_000007.13:g.27135314_27135322dup , CM000669.1:g.27135314_27135322dup	GRCh37
NC_000007.12:g.27101839_27101847dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.215_223dup MANE Select	ENSP00000494260.2:p.His74_Pro75insHisArgH...
ENST00000343060.4:c.215_223dup	ENSP00000343246.4:p.His74_Pro75insHisArgH...
ENST00000355633.5:c.215_223dup	ENSP00000347851.5:p.His74_Pro75insHisArgH...
NM_005522.5:c.215_223dup MANE Select	NP_005513.2:p.His74_Pro75insHisArgHis
NM_153620.3:c.215_223dup	NP_705873.3:p.His74_Pro75insHisArgHis