Canonical Allele Identifier: CA4198537
Gene: HOXA13 HGNC NCBI

Linked Data

dbSNP Id: rs774811041
ExAC: 7:27237794 CT / C
gnomAD v2: 7-27237794-CT-C
MyVariant Identifiers: chr7:g.27237795del (hg19) chr7:g.27198176del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198177del , CM000669.2:g.27198177del GRCh38
NC_000007.13:g.27237796del , CM000669.1:g.27237796del GRCh37
NC_000007.12:g.27204321del NCBI36
NG_008181.1:g.6931del
NG_008181.2:g.6931del

Transcript Alleles

HGVS Amino-acid change
ENST00000649031.1:c.*22del MANE Select ENSP00000497112.1:n.*22del
ENST00000222753.5:c.*22del ENSP00000222753.4:n.*22del
NM_000522.4:c.*22del NP_000513.2:n.*22del
XM_011515344.1:c.*22del XP_011513646.1:n.*22del
NM_000522.5:c.*22del MANE Select NP_000513.2:n.*22del
Search 100 bp 5'
Search 100 bp 3'