Canonical Allele Identifier: CA1528949215
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871578_14871600delinsGCGCGGCGGCGGCGGCTCCTCCT , CM000667.2:g.14871578_14871600delinsGCGCGGCGGCGGCGGCTCCTCCT GRCh38
NC_000005.9:g.14871687_14871709delinsGCGCGGCGGCGGCGGCTCCTCCT , CM000667.1:g.14871687_14871709delinsGCGCGGCGGCGGCGGCTCCTCCT GRCh37
NC_000005.8:g.14924687_14924709delinsGCGCGGCGGCGGCGGCTCCTCCT NCBI36
NG_008273.1:g.5179_5201delinsAGGAGGAGCCGCCGCCGCCGCGC
NG_008273.2:g.5186_5208delinsAGGAGGAGCCGCCGCCGCCGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC MANE Select ENSP00000284268.6:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC
ENST00000284268.6:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC ENSP00000284268.6:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC
ENST00000505140.1:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC ENSP00000426332.1:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC
NM_054027.4:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC NP_473368.1:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC
XM_011514067.1:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC XP_011512369.1:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC
NM_054027.5:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC NP_473368.1:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC
NM_054027.6:c.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC MANE Select NP_473368.1:n.-153_-131delinsAGGAGGAGCCGCCGCCGCCGCGC