Canonical Allele Identifier: CA10619360
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 351934
ClinVar RCV Id: RCV000346435 RCV000406131
dbSNP Id: rs531421951
gnomAD v2: 5-14871826-ACGG-A
gnomAD v3: 5-14871717-ACGG-A
gnomAD v4: 5-14871717-ACGG-A
MyVariant Identifiers: chr5:g.14871836_14871838del (hg19) chr5:g.14871827_14871829del (hg19) chr5:g.14871727_14871729del (hg38) chr5:g.14871718_14871720del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871737_14871739del , CM000667.2:g.14871737_14871739del GRCh38
NC_000005.9:g.14871846_14871848del , CM000667.1:g.14871846_14871848del GRCh37
NC_000005.8:g.14924846_14924848del NCBI36
NG_008273.1:g.5059_5061del
NG_008273.2:g.5066_5068del

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.-273_-271del MANE Select ENSP00000284268.6:n.-273_-271del
ENST00000284268.6:c.-273_-271del ENSP00000284268.6:n.-273_-271del
NM_054027.4:c.-273_-271del NP_473368.1:n.-273_-271del
XM_011514067.1:c.-273_-271del XP_011512369.1:n.-273_-271del
NM_054027.5:c.-273_-271del NP_473368.1:n.-273_-271del
NM_054027.6:c.-273_-271del MANE Select NP_473368.1:n.-273_-271del
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