Canonical Allele Identifier: CA114720365
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs200401049
gnomAD v2: 5-14717041-GA-G
gnomAD v3: 5-14716932-GA-G
gnomAD v4: 5-14716932-GA-G
MyVariant Identifiers: chr5:g.14717042del (hg19) chr5:g.14716933del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716933del , CM000667.2:g.14716933del GRCh38
NC_000005.9:g.14717042del , CM000667.1:g.14717042del GRCh37
NC_000005.8:g.14770042del NCBI36
NG_008273.1:g.159846del
NG_008273.2:g.159853del
NG_051625.1:g.61140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-98del MANE Select ENSP00000284268.6:n.1012-98del
ENST00000284268.6:c.1012-98del ENSP00000284268.6:n.1012-98del
ENST00000502585.1:n.156del
NM_054027.4:c.1012-98del NP_473368.1:n.1012-98del
NM_054027.5:c.1012-98del NP_473368.1:n.1012-98del
XM_017009644.2:c.928-98del XP_016865133.1:n.928-98del
NM_054027.6:c.1012-98del MANE Select NP_473368.1:n.1012-98del
Search 100 bp 5'
Search 100 bp 3'