Canonical Allele Identifier: CA2673310566
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716900-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716902del , CM000667.2:g.14716902del GRCh38
NC_000005.9:g.14717011del , CM000667.1:g.14717011del GRCh37
NC_000005.8:g.14770011del NCBI36
NG_008273.1:g.159878del
NG_008273.2:g.159885del
NG_051625.1:g.61109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-66del MANE Select ENSP00000284268.6:n.1012-66del
ENST00000284268.6:c.1012-66del ENSP00000284268.6:n.1012-66del
ENST00000502585.1:n.188del
NM_054027.4:c.1012-66del NP_473368.1:n.1012-66del
NM_054027.5:c.1012-66del NP_473368.1:n.1012-66del
XM_017009644.2:c.928-66del XP_016865133.1:n.928-66del
NM_054027.6:c.1012-66del MANE Select NP_473368.1:n.1012-66del
Search 100 bp 5'
Search 100 bp 3'