Canonical Allele Identifier: CA805272880
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1263867640
gnomAD v4: 5-14716985-C-CT
MyVariant Identifiers: chr5:g.14717094_14717095insT (hg19) chr5:g.14716985_14716986insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716986dup , CM000667.2:g.14716986dup GRCh38
NC_000005.9:g.14717095dup , CM000667.1:g.14717095dup GRCh37
NC_000005.8:g.14770095dup NCBI36
NG_008273.1:g.159793dup
NG_008273.2:g.159800dup
NG_051625.1:g.61193dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-151dup MANE Select ENSP00000284268.6:n.1012-151dup
ENST00000284268.6:c.1012-151dup ENSP00000284268.6:n.1012-151dup
ENST00000502585.1:n.103dup
NM_054027.4:c.1012-151dup NP_473368.1:n.1012-151dup
NM_054027.5:c.1012-151dup NP_473368.1:n.1012-151dup
XM_017009644.2:c.928-151dup XP_016865133.1:n.928-151dup
NM_054027.6:c.1012-151dup MANE Select NP_473368.1:n.1012-151dup
Search 100 bp 5'
Search 100 bp 3'