Canonical Allele Identifier: CA454507828

Gene: HOXA1

Linked Data

• gnomAD v4: 7-27095737-AC-A
• COSMIC: COSM1450182
• MyVariant Identifiers: chr7:g.27135357del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095743del , CM000669.2:g.27095743del	GRCh38
NC_000007.13:g.27135362del , CM000669.1:g.27135362del	GRCh37
NC_000007.12:g.27101887del	NCBI36
NG_011813.1:g.5269del
NG_033087.1:g.4650del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.175del MANE Select	ENSP00000494260.2:p.Val59CysfsTer?
ENST00000343060.4:c.175del	ENSP00000343246.4:p.Val59CysfsTer?
ENST00000355633.5:c.175del	ENSP00000347851.5:p.Val59CysfsTer?
NM_005522.4:c.175del	NP_005513.1:p.Val59CysfsTer?
NM_153620.2:c.175del	NP_705873.2:p.Val59CysfsTer?
NM_005522.5:c.175del MANE Select	NP_005513.2:p.Val59CysfsTer?
NM_153620.3:c.175del	NP_705873.3:p.Val59CysfsTer?