Canonical Allele Identifier: CA2673314845
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871579-CGCGGCGGCGGCGGCTCCTCCTCGCGGCTGCGGCGCCTTCTCCGAGCGCGGCTGCTCTAGCAGGGGATCCGCAAGCTCAAGTCCATCCCTGCTGCCCTCCCACACAACAAAGATCTGCCGGGAAAAAAAAGAGGAGGGACG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871594_14871733del , CM000667.2:g.14871594_14871733del GRCh38
NC_000005.9:g.14871703_14871842del , CM000667.1:g.14871703_14871842del GRCh37
NC_000005.8:g.14924703_14924842del NCBI36
NG_008273.1:g.5060_5199del
NG_008273.2:g.5067_5206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-272_-133del MANE Select ENSP00000284268.6:n.-272_-133del
ENST00000284268.6:c.-272_-133del ENSP00000284268.6:n.-272_-133del
NM_054027.4:c.-272_-133del NP_473368.1:n.-272_-133del
XM_011514067.1:c.-272_-133del XP_011512369.1:n.-272_-133del
NM_054027.5:c.-272_-133del NP_473368.1:n.-272_-133del
NM_054027.6:c.-272_-133del MANE Select NP_473368.1:n.-272_-133del
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