Canonical Allele Identifier: CA2765375259
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871523del , CM000667.2:g.14871523del GRCh38
NC_000005.9:g.14871632del , CM000667.1:g.14871632del GRCh37
NC_000005.8:g.14924632del NCBI36
NG_008273.1:g.5259del
NG_008273.2:g.5266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-73del MANE Select ENSP00000284268.6:n.-73del
ENST00000284268.6:c.-73del ENSP00000284268.6:n.-73del
ENST00000505140.1:c.-73del ENSP00000426332.1:n.-73del
NM_054027.4:c.-73del NP_473368.1:n.-73del
XM_011514067.1:c.-73del XP_011512369.1:n.-73del
NM_054027.5:c.-73del NP_473368.1:n.-73del
NM_054027.6:c.-73del MANE Select NP_473368.1:n.-73del