Canonical Allele Identifier: CA454507766
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs1221370806
gnomAD v2: 7-27135332-TGGTGGTGGG-T
gnomAD v3: 7-27095713-TGGTGGTGGG-T
gnomAD v4: 7-27095713-TGGTGGTGGG-T
MyVariant Identifiers: chr7:g.27135333_27135341del (hg19) chr7:g.27095714_27095722del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095715_27095723del , CM000669.2:g.27095715_27095723del GRCh38
NC_000007.13:g.27135334_27135342del , CM000669.1:g.27135334_27135342del GRCh37
NC_000007.12:g.27101859_27101867del NCBI36
NG_011813.1:g.5285_5293del
NG_033087.1:g.4622_4630del

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.191_199del MANE Select ENSP00000494260.2:p.Pro64_His66del
ENST00000343060.4:c.191_199del ENSP00000343246.4:p.Pro64_His66del
ENST00000355633.5:c.191_199del ENSP00000347851.5:p.Pro64_His66del
NM_005522.4:c.191_199del NP_005513.1:p.Pro64_His66del
NM_153620.2:c.191_199del NP_705873.2:p.Pro64_His66del
NM_005522.5:c.191_199del MANE Select NP_005513.2:p.Pro64_His66del
NM_153620.3:c.191_199del NP_705873.3:p.Pro64_His66del
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