Canonical Allele Identifier: CA2673310643
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716957-GTGGGCATGCTGGTCCCAGATCTGCCACCTGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716959_14716989del , CM000667.2:g.14716959_14716989del GRCh38
NC_000005.9:g.14717068_14717098del , CM000667.1:g.14717068_14717098del GRCh37
NC_000005.8:g.14770068_14770098del NCBI36
NG_008273.1:g.159791_159821del
NG_008273.2:g.159798_159828del
NG_051625.1:g.61166_61196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-153_1012-123del MANE Select ENSP00000284268.6:n.1012-153_1012-123del
ENST00000284268.6:c.1012-153_1012-123del ENSP00000284268.6:n.1012-153_1012-123del
ENST00000502585.1:n.101_131del
NM_054027.4:c.1012-153_1012-123del NP_473368.1:n.1012-153_1012-123del
NM_054027.5:c.1012-153_1012-123del NP_473368.1:n.1012-153_1012-123del
XM_017009644.2:c.928-153_928-123del XP_016865133.1:n.928-153_928-123del
NM_054027.6:c.1012-153_1012-123del MANE Select NP_473368.1:n.1012-153_1012-123del
Search 100 bp 5'
Search 100 bp 3'