Canonical Allele Identifier: CA2673310730
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14717007-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14717009del , CM000667.2:g.14717009del GRCh38
NC_000005.9:g.14717118del , CM000667.1:g.14717118del GRCh37
NC_000005.8:g.14770118del NCBI36
NG_008273.1:g.159771del
NG_008273.2:g.159778del
NG_051625.1:g.61216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-173del MANE Select ENSP00000284268.6:n.1012-173del
ENST00000284268.6:c.1012-173del ENSP00000284268.6:n.1012-173del
ENST00000502585.1:n.81del
NM_054027.4:c.1012-173del NP_473368.1:n.1012-173del
NM_054027.5:c.1012-173del NP_473368.1:n.1012-173del
XM_017009644.2:c.928-173del XP_016865133.1:n.928-173del
NM_054027.6:c.1012-173del MANE Select NP_473368.1:n.1012-173del
Search 100 bp 5'
Search 100 bp 3'