Canonical Allele Identifier: CA573758423
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs1562700032
gnomAD v2: 7-27135322-G-GTGGTGA
MyVariant Identifiers: chr7:g.27135322_27135323insTGGTGA (hg19) chr7:g.27095703_27095704insTGGTGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095708_27095709insATGGTG , CM000669.2:g.27095708_27095709insATGGTG GRCh38
NC_000007.13:g.27135327_27135328insATGGTG , CM000669.1:g.27135327_27135328insATGGTG GRCh37
NC_000007.12:g.27101852_27101853insATGGTG NCBI36
NG_011813.1:g.5303_5304insTCACCA
NG_033087.1:g.4615_4616insATGGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.209_210insTCACCA MANE Select ENSP00000494260.2:p.His70_His71insHisHis
ENST00000343060.4:c.209_210insTCACCA ENSP00000343246.4:p.His70_His71insHisHis
ENST00000355633.5:c.209_210insTCACCA ENSP00000347851.5:p.His70_His71insHisHis
NM_005522.4:c.209_210insTCACCA NP_005513.1:p.His70_His71insHisHis
NM_153620.2:c.209_210insTCACCA NP_705873.2:p.His70_His71insHisHis
NM_005522.5:c.209_210insTCACCA MANE Select NP_005513.2:p.His70_His71insHisHis
NM_153620.3:c.209_210insTCACCA NP_705873.3:p.His70_His71insHisHis
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