Canonical Allele Identifier: CA114720394
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs772747941
gnomAD v3: 5-14716950-C-CT
gnomAD v4: 5-14716950-C-CT
MyVariant Identifiers: chr5:g.14717059_14717060insT (hg19) chr5:g.14716950_14716951insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716951dup , CM000667.2:g.14716951dup GRCh38
NC_000005.9:g.14717060dup , CM000667.1:g.14717060dup GRCh37
NC_000005.8:g.14770060dup NCBI36
NG_008273.1:g.159828dup
NG_008273.2:g.159835dup
NG_051625.1:g.61158dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-116dup MANE Select ENSP00000284268.6:n.1012-116dup
ENST00000284268.6:c.1012-116dup ENSP00000284268.6:n.1012-116dup
ENST00000502585.1:n.138dup
NM_054027.4:c.1012-116dup NP_473368.1:n.1012-116dup
NM_054027.5:c.1012-116dup NP_473368.1:n.1012-116dup
XM_017009644.2:c.928-116dup XP_016865133.1:n.928-116dup
NM_054027.6:c.1012-116dup MANE Select NP_473368.1:n.1012-116dup
Search 100 bp 5'
Search 100 bp 3'