Canonical Allele Identifier: CA2673314643
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871312-G-GGCAGGGCGAGCGGGCGTGGGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871315_14871336dup , CM000667.2:g.14871315_14871336dup GRCh38
NC_000005.9:g.14871424_14871445dup , CM000667.1:g.14871424_14871445dup GRCh37
NC_000005.8:g.14924424_14924445dup NCBI36
NG_008273.1:g.5445_5466dup
NG_008273.2:g.5452_5473dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+18_96+39dup MANE Select ENSP00000284268.6:n.96+18_96+39dup
ENST00000284268.6:c.96+18_96+39dup ENSP00000284268.6:n.96+18_96+39dup
ENST00000505140.1:c.114_135dup ENSP00000426332.1:p.Leu46AlafsTer30
ENST00000513115.1:n.121+18_121+39dup
NM_054027.4:c.96+18_96+39dup NP_473368.1:n.96+18_96+39dup
XM_011514067.1:c.96+18_96+39dup XP_011512369.1:n.96+18_96+39dup
NM_054027.5:c.96+18_96+39dup NP_473368.1:n.96+18_96+39dup
NM_054027.6:c.96+18_96+39dup MANE Select NP_473368.1:n.96+18_96+39dup
Search 100 bp 5'
Search 100 bp 3'