Canonical Allele Identifier: CA837187183

Gene: HOXA1

Linked Data

• dbSNP Id: rs1262576522
• gnomAD v4: 7-27095484-G-GTGA
• MyVariant Identifiers: chr7:g.27135103_27135104insTGA (hg19) ; chr7:g.27095484_27095485insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095487_27095489dup , CM000669.2:g.27095487_27095489dup	GRCh38
NC_000007.13:g.27135106_27135108dup , CM000669.1:g.27135106_27135108dup	GRCh37
NC_000007.12:g.27101631_27101633dup	NCBI36
NG_011813.1:g.5520_5522dup
NG_033087.1:g.4394_4396dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.426_428dup MANE Select	ENSP00000494260.2:p.His143_His144insHis
ENST00000343060.4:c.426_428dup	ENSP00000343246.4:p.His143_His144insHis
ENST00000355633.5:c.354+72_354+74dup	ENSP00000347851.5:n.354+72_354+74dup
NM_005522.4:c.426_428dup	NP_005513.1:p.His143_His144insHis
NM_153620.2:c.354+72_354+74dup	NP_705873.2:n.354+72_354+74dup
NM_005522.5:c.426_428dup MANE Select	NP_005513.2:p.His143_His144insHis
NM_153620.3:c.354+72_354+74dup	NP_705873.3:n.354+72_354+74dup