Canonical Allele Identifier: CA2673310464
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716808-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716811del , CM000667.2:g.14716811del GRCh38
NC_000005.9:g.14716920del , CM000667.1:g.14716920del GRCh37
NC_000005.8:g.14769920del NCBI36
NG_008273.1:g.159970del
NG_008273.2:g.159977del
NG_051625.1:g.61018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1038del MANE Select ENSP00000284268.6:p.Asn347ThrfsTer7
ENST00000284268.6:c.1038del ENSP00000284268.6:p.Asn347ThrfsTer7
ENST00000502585.1:n.280del
NM_054027.4:c.1038del NP_473368.1:p.Asn347ThrfsTer7
NM_054027.5:c.1038del NP_473368.1:p.Asn347ThrfsTer7
XM_017009644.2:c.954del XP_016865133.1:p.Asn319ThrfsTer7
NM_054027.6:c.1038del MANE Select NP_473368.1:p.Asn347ThrfsTer7
Search 100 bp 5'
Search 100 bp 3'