Canonical Allele Identifier: CA1528949126
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871511_14871519delinsAGGGGCGAC , CM000667.2:g.14871511_14871519delinsAGGGGCGAC GRCh38
NC_000005.9:g.14871620_14871628delinsAGGGGCGAC , CM000667.1:g.14871620_14871628delinsAGGGGCGAC GRCh37
NC_000005.8:g.14924620_14924628delinsAGGGGCGAC NCBI36
NG_008273.1:g.5260_5268delinsGTCGCCCCT
NG_008273.2:g.5267_5275delinsGTCGCCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-72_-64delinsGTCGCCCCT MANE Select ENSP00000284268.6:n.-72_-64delinsGTCGCCCCT
ENST00000284268.6:c.-72_-64delinsGTCGCCCCT ENSP00000284268.6:n.-72_-64delinsGTCGCCCCT
ENST00000505140.1:c.-72_-64delinsGTCGCCCCT ENSP00000426332.1:n.-72_-64delinsGTCGCCCCT
NM_054027.4:c.-72_-64delinsGTCGCCCCT NP_473368.1:n.-72_-64delinsGTCGCCCCT
XM_011514067.1:c.-72_-64delinsGTCGCCCCT XP_011512369.1:n.-72_-64delinsGTCGCCCCT
NM_054027.5:c.-72_-64delinsGTCGCCCCT NP_473368.1:n.-72_-64delinsGTCGCCCCT
NM_054027.6:c.-72_-64delinsGTCGCCCCT MANE Select NP_473368.1:n.-72_-64delinsGTCGCCCCT