Canonical Allele Identifier: CA2673314776
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871536-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871540del , CM000667.2:g.14871540del GRCh38
NC_000005.9:g.14871649del , CM000667.1:g.14871649del GRCh37
NC_000005.8:g.14924649del NCBI36
NG_008273.1:g.5242del
NG_008273.2:g.5249del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-90del MANE Select ENSP00000284268.6:n.-90del
ENST00000284268.6:c.-90del ENSP00000284268.6:n.-90del
ENST00000505140.1:c.-90del ENSP00000426332.1:n.-90del
NM_054027.4:c.-90del NP_473368.1:n.-90del
XM_011514067.1:c.-90del XP_011512369.1:n.-90del
NM_054027.5:c.-90del NP_473368.1:n.-90del
NM_054027.6:c.-90del MANE Select NP_473368.1:n.-90del
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