Canonical Allele Identifier: CA1528949139
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871524_14871525delinsCG , CM000667.2:g.14871524_14871525delinsCG GRCh38
NC_000005.9:g.14871633_14871634delinsCG , CM000667.1:g.14871633_14871634delinsCG GRCh37
NC_000005.8:g.14924633_14924634delinsCG NCBI36
NG_008273.1:g.5254_5255delinsCG
NG_008273.2:g.5261_5262delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-78_-77delinsCG MANE Select ENSP00000284268.6:n.-78_-77delinsCG
ENST00000284268.6:c.-78_-77delinsCG ENSP00000284268.6:n.-78_-77delinsCG
ENST00000505140.1:c.-78_-77delinsCG ENSP00000426332.1:n.-78_-77delinsCG
NM_054027.4:c.-78_-77delinsCG NP_473368.1:n.-78_-77delinsCG
XM_011514067.1:c.-78_-77delinsCG XP_011512369.1:n.-78_-77delinsCG
NM_054027.5:c.-78_-77delinsCG NP_473368.1:n.-78_-77delinsCG
NM_054027.6:c.-78_-77delinsCG MANE Select NP_473368.1:n.-78_-77delinsCG