Canonical Allele Identifier: CA2838832920
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871329_14871335del , CM000667.2:g.14871329_14871335del GRCh38
NC_000005.9:g.14871438_14871444del , CM000667.1:g.14871438_14871444del GRCh37
NC_000005.8:g.14924438_14924444del NCBI36
NG_008273.1:g.5449_5455del
NG_008273.2:g.5456_5462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+22_96+28del MANE Select ENSP00000284268.6:n.96+22_96+28del
ENST00000284268.6:c.96+22_96+28del ENSP00000284268.6:n.96+22_96+28del
ENST00000505140.1:c.118_124del ENSP00000426332.1:p.His40AlafsTer?
ENST00000513115.1:n.121+22_121+28del
NM_054027.4:c.96+22_96+28del NP_473368.1:n.96+22_96+28del
XM_011514067.1:c.96+22_96+28del XP_011512369.1:n.96+22_96+28del
NM_054027.5:c.96+22_96+28del NP_473368.1:n.96+22_96+28del
NM_054027.6:c.96+22_96+28del MANE Select NP_473368.1:n.96+22_96+28del