Canonical Allele Identifier: CA2682147450
Gene: HOXA13 HGNC NCBI

Linked Data

gnomAD v4: 7-27198065-GGAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198066_27198068del , CM000669.2:g.27198066_27198068del GRCh38
NC_000007.13:g.27237685_27237687del , CM000669.1:g.27237685_27237687del GRCh37
NC_000007.12:g.27204210_27204212del NCBI36
NG_008181.1:g.7039_7041del
NG_008181.2:g.7039_7041del

Transcript Alleles

HGVS Amino-acid change
ENST00000649031.1:c.*130_*132del MANE Select ENSP00000497112.1:n.*130_*132del
ENST00000222753.5:c.*130_*132del ENSP00000222753.4:n.*130_*132del
NM_000522.4:c.*130_*132del NP_000513.2:n.*130_*132del
XM_011515344.1:c.*130_*132del XP_011513646.1:n.*130_*132del
NM_000522.5:c.*130_*132del MANE Select NP_000513.2:n.*130_*132del
Search 100 bp 5'
Search 100 bp 3'