Canonical Allele Identifier: CA1528949195
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871561_14871584delinsGGGCGGCGGGGCCTCGGGCGCGGC , CM000667.2:g.14871561_14871584delinsGGGCGGCGGGGCCTCGGGCGCGGC GRCh38
NC_000005.9:g.14871670_14871693delinsGGGCGGCGGGGCCTCGGGCGCGGC , CM000667.1:g.14871670_14871693delinsGGGCGGCGGGGCCTCGGGCGCGGC GRCh37
NC_000005.8:g.14924670_14924693delinsGGGCGGCGGGGCCTCGGGCGCGGC NCBI36
NG_008273.1:g.5195_5218delinsGCCGCGCCCGAGGCCCCGCCGCCC
NG_008273.2:g.5202_5225delinsGCCGCGCCCGAGGCCCCGCCGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC MANE Select ENSP00000284268.6:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC
ENST00000284268.6:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC ENSP00000284268.6:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC
ENST00000505140.1:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC ENSP00000426332.1:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC
NM_054027.4:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC NP_473368.1:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC
XM_011514067.1:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC XP_011512369.1:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC
NM_054027.5:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC NP_473368.1:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC
NM_054027.6:c.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC MANE Select NP_473368.1:n.-137_-114delinsGCCGCGCCCGAGGCCCCGCCGCCC