Canonical Allele Identifier: CA2673310480
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716868-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716873del , CM000667.2:g.14716873del GRCh38
NC_000005.9:g.14716982del , CM000667.1:g.14716982del GRCh37
NC_000005.8:g.14769982del NCBI36
NG_008273.1:g.159910del
NG_008273.2:g.159917del
NG_051625.1:g.61080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-34del MANE Select ENSP00000284268.6:n.1012-34del
ENST00000284268.6:c.1012-34del ENSP00000284268.6:n.1012-34del
ENST00000502585.1:n.220del
NM_054027.4:c.1012-34del NP_473368.1:n.1012-34del
NM_054027.5:c.1012-34del NP_473368.1:n.1012-34del
XM_017009644.2:c.928-34del XP_016865133.1:n.928-34del
NM_054027.6:c.1012-34del MANE Select NP_473368.1:n.1012-34del
Search 100 bp 5'
Search 100 bp 3'