Canonical Allele Identifier: CA2501319132
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871512_14871515del , CM000667.2:g.14871512_14871515del GRCh38
NC_000005.9:g.14871621_14871624del , CM000667.1:g.14871621_14871624del GRCh37
NC_000005.8:g.14924621_14924624del NCBI36
NG_008273.1:g.5264_5267del
NG_008273.2:g.5271_5274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-68_-65del MANE Select ENSP00000284268.6:n.-68_-65del
ENST00000284268.6:c.-68_-65del ENSP00000284268.6:n.-68_-65del
ENST00000505140.1:c.-68_-65del ENSP00000426332.1:n.-68_-65del
NM_054027.4:c.-68_-65del NP_473368.1:n.-68_-65del
XM_011514067.1:c.-68_-65del XP_011512369.1:n.-68_-65del
NM_054027.5:c.-68_-65del NP_473368.1:n.-68_-65del
NM_054027.6:c.-68_-65del MANE Select NP_473368.1:n.-68_-65del