Canonical Allele Identifier: CA2765375261
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871526_14871530del , CM000667.2:g.14871526_14871530del GRCh38
NC_000005.9:g.14871635_14871639del , CM000667.1:g.14871635_14871639del GRCh37
NC_000005.8:g.14924635_14924639del NCBI36
NG_008273.1:g.5250_5254del
NG_008273.2:g.5257_5261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-82_-78del MANE Select ENSP00000284268.6:n.-82_-78del
ENST00000284268.6:c.-82_-78del ENSP00000284268.6:n.-82_-78del
ENST00000505140.1:c.-82_-78del ENSP00000426332.1:n.-82_-78del
NM_054027.4:c.-82_-78del NP_473368.1:n.-82_-78del
XM_011514067.1:c.-82_-78del XP_011512369.1:n.-82_-78del
NM_054027.5:c.-82_-78del NP_473368.1:n.-82_-78del
NM_054027.6:c.-82_-78del MANE Select NP_473368.1:n.-82_-78del