Canonical Allele Identifier: CA805272884
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1485280783
gnomAD v3: 5-14716996-ACT-A
gnomAD v4: 5-14716996-ACT-A
MyVariant Identifiers: chr5:g.14717106_14717107del (hg19) chr5:g.14716997_14716998del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14717001_14717002del , CM000667.2:g.14717001_14717002del GRCh38
NC_000005.9:g.14717110_14717111del , CM000667.1:g.14717110_14717111del GRCh37
NC_000005.8:g.14770110_14770111del NCBI36
NG_008273.1:g.159781_159782del
NG_008273.2:g.159788_159789del
NG_051625.1:g.61208_61209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-163_1012-162del MANE Select ENSP00000284268.6:n.1012-163_1012-162del
ENST00000284268.6:c.1012-163_1012-162del ENSP00000284268.6:n.1012-163_1012-162del
ENST00000502585.1:n.91_92del
NM_054027.4:c.1012-163_1012-162del NP_473368.1:n.1012-163_1012-162del
NM_054027.5:c.1012-163_1012-162del NP_473368.1:n.1012-163_1012-162del
XM_017009644.2:c.928-163_928-162del XP_016865133.1:n.928-163_928-162del
NM_054027.6:c.1012-163_1012-162del MANE Select NP_473368.1:n.1012-163_1012-162del
Search 100 bp 5'
Search 100 bp 3'