Canonical Allele Identifier: CA1073456440
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1737489135
gnomAD v3: 5-14716930-AAG-A
gnomAD v4: 5-14716930-AAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716933_14716934del , CM000667.2:g.14716933_14716934del GRCh38
NC_000005.9:g.14717042_14717043del , CM000667.1:g.14717042_14717043del GRCh37
NC_000005.8:g.14770042_14770043del NCBI36
NG_008273.1:g.159847_159848del
NG_008273.2:g.159854_159855del
NG_051625.1:g.61140_61141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-97_1012-96del MANE Select ENSP00000284268.6:n.1012-97_1012-96del
ENST00000284268.6:c.1012-97_1012-96del ENSP00000284268.6:n.1012-97_1012-96del
ENST00000502585.1:n.157_158del
NM_054027.4:c.1012-97_1012-96del NP_473368.1:n.1012-97_1012-96del
NM_054027.5:c.1012-97_1012-96del NP_473368.1:n.1012-97_1012-96del
XM_017009644.2:c.928-97_928-96del XP_016865133.1:n.928-97_928-96del
NM_054027.6:c.1012-97_1012-96del MANE Select NP_473368.1:n.1012-97_1012-96del
Search 100 bp 5'
Search 100 bp 3'