Canonical Allele Identifier: CA558016036
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1297043788
gnomAD v2: 5-14871643-A-ACGGGGCGT
gnomAD v3: 5-14871534-A-ACGGGGCGT
gnomAD v4: 5-14871534-A-ACGGGGCGT
MyVariant Identifiers: chr5:g.14871643_14871644insCGGGGCGT (hg19) chr5:g.14871644_14871652delinsCGGGGCGTGCGGGGCGC (hg19) chr5:g.14871534_14871535insCGGGGCGT (hg38) chr5:g.14871535_14871543delinsCGGGGCGTGCGGGGCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871534_14871535insCGGGGCGT , CM000667.2:g.14871534_14871535insCGGGGCGT GRCh38
NC_000005.9:g.14871643_14871644insCGGGGCGT , CM000667.1:g.14871643_14871644insCGGGGCGT GRCh37
NC_000005.8:g.14924643_14924644insCGGGGCGT NCBI36
NG_008273.1:g.5244_5245insACGCCCCG
NG_008273.2:g.5251_5252insACGCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-88_-87insACGCCCCG MANE Select ENSP00000284268.6:n.-88_-87insACGCCCCG
ENST00000284268.6:c.-88_-87insACGCCCCG ENSP00000284268.6:n.-88_-87insACGCCCCG
ENST00000505140.1:c.-88_-87insACGCCCCG ENSP00000426332.1:n.-88_-87insACGCCCCG
NM_054027.4:c.-88_-87insACGCCCCG NP_473368.1:n.-88_-87insACGCCCCG
XM_011514067.1:c.-88_-87insACGCCCCG XP_011512369.1:n.-88_-87insACGCCCCG
NM_054027.5:c.-88_-87insACGCCCCG NP_473368.1:n.-88_-87insACGCCCCG
NM_054027.6:c.-88_-87insACGCCCCG MANE Select NP_473368.1:n.-88_-87insACGCCCCG
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