Canonical Allele Identifier: CA1528949125
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871510_14871518delinsGAGGGGCGA , CM000667.2:g.14871510_14871518delinsGAGGGGCGA GRCh38
NC_000005.9:g.14871619_14871627delinsGAGGGGCGA , CM000667.1:g.14871619_14871627delinsGAGGGGCGA GRCh37
NC_000005.8:g.14924619_14924627delinsGAGGGGCGA NCBI36
NG_008273.1:g.5261_5269delinsTCGCCCCTC
NG_008273.2:g.5268_5276delinsTCGCCCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-71_-63delinsTCGCCCCTC MANE Select ENSP00000284268.6:n.-71_-63delinsTCGCCCCTC
ENST00000284268.6:c.-71_-63delinsTCGCCCCTC ENSP00000284268.6:n.-71_-63delinsTCGCCCCTC
ENST00000505140.1:c.-71_-63delinsTCGCCCCTC ENSP00000426332.1:n.-71_-63delinsTCGCCCCTC
NM_054027.4:c.-71_-63delinsTCGCCCCTC NP_473368.1:n.-71_-63delinsTCGCCCCTC
XM_011514067.1:c.-71_-63delinsTCGCCCCTC XP_011512369.1:n.-71_-63delinsTCGCCCCTC
NM_054027.5:c.-71_-63delinsTCGCCCCTC NP_473368.1:n.-71_-63delinsTCGCCCCTC
NM_054027.6:c.-71_-63delinsTCGCCCCTC MANE Select NP_473368.1:n.-71_-63delinsTCGCCCCTC