Canonical Allele Identifier: CA4196001
Gene: HOXA1 HGNC NCBI
gnomAD v2:
7:27135319 G / GTGGTGA
gnomAD v3:
7:27095700 G / GTGGTGA
gnomAD v4:
chr7-27095700-G-GTGGTGA
Joint Max Group AF 0.00003554 (NFE)
Genomes Max Group AF 0.00001986 (NFE)
Exomes Max Group AF 0.00003458 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095705_27095706insATGGTG , CM000669.2:g.27095705_27095706insATGGTG GRCh38
NC_000007.13:g.27135324_27135325insATGGTG , CM000669.1:g.27135324_27135325insATGGTG GRCh37
NC_000007.12:g.27101849_27101850insATGGTG NCBI36
NG_011813.1:g.5306_5307insTCACCA
NG_033087.1:g.4612_4613insATGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.212_213insTCACCA MANE Select ENSP00000494260.2:p.His71_His72insHisHis
ENST00000343060.4:c.212_213insTCACCA ENSP00000343246.4:p.His71_His72insHisHis
ENST00000355633.5:c.212_213insTCACCA ENSP00000347851.5:p.His71_His72insHisHis
NM_005522.4:c.212_213insTCACCA NP_005513.1:p.His71_His72insHisHis
NM_153620.2:c.212_213insTCACCA NP_705873.2:p.His71_His72insHisHis
NM_005522.5:c.212_213insTCACCA MANE Select NP_005513.2:p.His71_His72insHisHis
NM_153620.3:c.212_213insTCACCA NP_705873.3:p.His71_His72insHisHis
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