Canonical Allele Identifier: CA2673314932
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871663-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871664del , CM000667.2:g.14871664del GRCh38
NC_000005.9:g.14871773del , CM000667.1:g.14871773del GRCh37
NC_000005.8:g.14924773del NCBI36
NG_008273.1:g.5115del
NG_008273.2:g.5122del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-217del MANE Select ENSP00000284268.6:n.-217del
ENST00000284268.6:c.-217del ENSP00000284268.6:n.-217del
ENST00000505140.1:c.-217del ENSP00000426332.1:n.-217del
NM_054027.4:c.-217del NP_473368.1:n.-217del
XM_011514067.1:c.-217del XP_011512369.1:n.-217del
NM_054027.5:c.-217del NP_473368.1:n.-217del
NM_054027.6:c.-217del MANE Select NP_473368.1:n.-217del
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