Canonical Allele Identifier: CA1528949154
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871527_14871533delinsCGGGGCG , CM000667.2:g.14871527_14871533delinsCGGGGCG GRCh38
NC_000005.9:g.14871636_14871642delinsCGGGGCG , CM000667.1:g.14871636_14871642delinsCGGGGCG GRCh37
NC_000005.8:g.14924636_14924642delinsCGGGGCG NCBI36
NG_008273.1:g.5246_5252delinsCGCCCCG
NG_008273.2:g.5253_5259delinsCGCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-86_-80delinsCGCCCCG MANE Select ENSP00000284268.6:n.-86_-80delinsCGCCCCG
ENST00000284268.6:c.-86_-80delinsCGCCCCG ENSP00000284268.6:n.-86_-80delinsCGCCCCG
ENST00000505140.1:c.-86_-80delinsCGCCCCG ENSP00000426332.1:n.-86_-80delinsCGCCCCG
NM_054027.4:c.-86_-80delinsCGCCCCG NP_473368.1:n.-86_-80delinsCGCCCCG
XM_011514067.1:c.-86_-80delinsCGCCCCG XP_011512369.1:n.-86_-80delinsCGCCCCG
NM_054027.5:c.-86_-80delinsCGCCCCG NP_473368.1:n.-86_-80delinsCGCCCCG
NM_054027.6:c.-86_-80delinsCGCCCCG MANE Select NP_473368.1:n.-86_-80delinsCGCCCCG