Canonical Allele Identifier: CA3275519358
Community Standard Title: NM_001360016.2(G6PD):c.844_846delinsCAC (p.Asp282His)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533594_154533596delinsGTG , CM000685.2:g.154533594_154533596delinsGTG GRCh38
NC_000023.10:g.153761809_153761811delinsGTG , CM000685.1:g.153761809_153761811delinsGTG GRCh37
NC_000023.9:g.153415003_153415005delinsGTG NCBI36
NG_009015.2:g.18977_18979delinsCAC

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.844_846delinsCAC MANE Select NP_001346945.1:p.Asp282His
ENST00000393562.10:c.844_846delinsCAC MANE Select ENSP00000377192.3:p.Asp282His
NM_000402.4:c.934_936delinsCAC NP_000393.4:p.Asp312His
NM_001042351.2:c.844_846delinsCAC NP_001035810.1:p.Asp282His
NM_001042351.3:c.844_846delinsCAC NP_001035810.1:p.Asp282His
ENST00000369620.6:c.982_984delinsCAC ENSP00000358633.2:p.Asp328His
ENST00000393562.6:c.934_936delinsCAC ENSP00000377192.2:p.Asp312His
ENST00000393564.6:c.844_846delinsCAC ENSP00000377194.2:p.Asp282His
ENST00000393564.7:c.844_846delinsCAC ENSP00000377194.2:p.Asp282His
ENST00000439227.5:c.847_849delinsCAC ENSP00000395599.1:p.Asp283His
ENST00000439227.6:c.847_849delinsCAC ENSP00000395599.2:p.Asp283His
ENST00000440967.5:c.847_849delinsCAC ENSP00000400648.1:p.Asp283His
ENST00000489497.1:n.233_235delinsCAC
ENST00000621232.4:c.844_846delinsCAC ENSP00000483686.1:p.Asp282His
ENST00000696420.1:c.844_846delinsCAC ENSP00000512615.1:p.Asp282His
ENST00000696421.1:c.844_846delinsCAC ENSP00000512616.1:p.Asp282His
ENST00000696422.1:c.707_709delinsCAC
ENST00000696423.1:c.710_712delinsCAC
ENST00000696424.1:c.696_698delinsCAC ENSP00000512619.1:p.Gln232_Met233delinsHisThr
ENST00000696425.1:c.844_846delinsCAC ENSP00000512620.1:p.Asp282His
ENST00000696426.1:c.844_846delinsCAC ENSP00000512621.1:p.Asp282His
ENST00000696427.1:c.844_846delinsCAC ENSP00000512622.1:p.Asp282His
ENST00000696428.1:c.*686_*688delinsCAC ENSP00000512623.1:n.*686_*688delinsCAC
ENST00000696429.1:c.844_846delinsCAC ENSP00000512624.1:p.Asp282His
ENST00000696430.1:c.844_846delinsCAC ENSP00000512625.1:p.Asp282His
XM_005274657.2:c.937_939delinsCAC XP_005274714.1:p.Asp313His
XM_005274658.2:c.847_849delinsCAC XP_005274715.1:p.Asp283His
XM_011531132.1:c.937_939delinsCAC XP_011529434.1:p.Asp313His