Canonical Allele Identifier: CA3275519392
Community Standard Title: NM_001360016.2(G6PD):c.844_846delinsTAC (p.Asp282Tyr)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533594_154533596delinsGTA , CM000685.2:g.154533594_154533596delinsGTA GRCh38
NC_000023.10:g.153761809_153761811delinsGTA , CM000685.1:g.153761809_153761811delinsGTA GRCh37
NC_000023.9:g.153415003_153415005delinsGTA NCBI36
NG_009015.2:g.18977_18979delinsTAC

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.844_846delinsTAC MANE Select NP_001346945.1:p.Asp282Tyr
ENST00000393562.10:c.844_846delinsTAC MANE Select ENSP00000377192.3:p.Asp282Tyr
NM_000402.4:c.934_936delinsTAC NP_000393.4:p.Asp312Tyr
NM_001042351.2:c.844_846delinsTAC NP_001035810.1:p.Asp282Tyr
NM_001042351.3:c.844_846delinsTAC NP_001035810.1:p.Asp282Tyr
ENST00000369620.6:c.982_984delinsTAC ENSP00000358633.2:p.Asp328Tyr
ENST00000393562.6:c.934_936delinsTAC ENSP00000377192.2:p.Asp312Tyr
ENST00000393564.6:c.844_846delinsTAC ENSP00000377194.2:p.Asp282Tyr
ENST00000393564.7:c.844_846delinsTAC ENSP00000377194.2:p.Asp282Tyr
ENST00000439227.5:c.847_849delinsTAC ENSP00000395599.1:p.Asp283Tyr
ENST00000439227.6:c.847_849delinsTAC ENSP00000395599.2:p.Asp283Tyr
ENST00000440967.5:c.847_849delinsTAC ENSP00000400648.1:p.Asp283Tyr
ENST00000489497.1:n.233_235delinsTAC
ENST00000621232.4:c.844_846delinsTAC ENSP00000483686.1:p.Asp282Tyr
ENST00000696420.1:c.844_846delinsTAC ENSP00000512615.1:p.Asp282Tyr
ENST00000696421.1:c.844_846delinsTAC ENSP00000512616.1:p.Asp282Tyr
ENST00000696422.1:c.707_709delinsTAC
ENST00000696423.1:c.710_712delinsTAC
ENST00000696424.1:c.696_698delinsTAC ENSP00000512619.1:p.Gln232_Met233delinsHisThr
ENST00000696425.1:c.844_846delinsTAC ENSP00000512620.1:p.Asp282Tyr
ENST00000696426.1:c.844_846delinsTAC ENSP00000512621.1:p.Asp282Tyr
ENST00000696427.1:c.844_846delinsTAC ENSP00000512622.1:p.Asp282Tyr
ENST00000696428.1:c.*686_*688delinsTAC ENSP00000512623.1:n.*686_*688delinsTAC
ENST00000696429.1:c.844_846delinsTAC ENSP00000512624.1:p.Asp282Tyr
ENST00000696430.1:c.844_846delinsTAC ENSP00000512625.1:p.Asp282Tyr
XM_005274657.2:c.937_939delinsTAC XP_005274714.1:p.Asp313Tyr
XM_005274658.2:c.847_849delinsTAC XP_005274715.1:p.Asp283Tyr
XM_011531132.1:c.937_939delinsTAC XP_011529434.1:p.Asp313Tyr