Canonical Allele Identifier: CA645541068
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871374_14871375del , CM000667.2:g.14871374_14871375del GRCh38
NC_000005.9:g.14871483_14871484del , CM000667.1:g.14871483_14871484del GRCh37
NC_000005.8:g.14924483_14924484del NCBI36
NG_008273.1:g.5405_5406del
NG_008273.2:g.5412_5413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.74_75del MANE Select ENSP00000284268.6:p.Ile25SerfsTer?
ENST00000284268.6:c.74_75del ENSP00000284268.6:p.Ile25SerfsTer?
ENST00000505140.1:c.74_75del ENSP00000426332.1:p.Ile25SerfsTer?
ENST00000513115.1:n.99_100del
NM_054027.4:c.74_75del NP_473368.1:p.Ile25SerfsTer?
XM_011514067.1:c.74_75del XP_011512369.1:p.Ile25SerfsTer?
NM_054027.5:c.74_75del NP_473368.1:p.Ile25SerfsTer?
NM_054027.6:c.74_75del MANE Select NP_473368.1:p.Ile25SerfsTer?