Canonical Allele Identifier: CA3275524237
Community Standard Title: NM_001360016.2(G6PD):c.680_681delinsAA (p.Arg227Gln)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534124_154534125delinsTT , CM000685.2:g.154534124_154534125delinsTT GRCh38
NC_000023.10:g.153762339_153762340delinsTT , CM000685.1:g.153762339_153762340delinsTT GRCh37
NC_000023.9:g.153415533_153415534delinsTT NCBI36
NG_009015.2:g.18448_18449delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.680_681delinsAA MANE Select NP_001346945.1:p.Arg227Gln
ENST00000393562.10:c.680_681delinsAA MANE Select ENSP00000377192.3:p.Arg227Gln
NM_000402.4:c.770_771delinsAA NP_000393.4:p.Arg257Gln
NM_001042351.2:c.680_681delinsAA NP_001035810.1:p.Arg227Gln
NM_001042351.3:c.680_681delinsAA NP_001035810.1:p.Arg227Gln
ENST00000369620.6:c.680_681delinsAA ENSP00000358633.2:p.Arg227Gln
ENST00000393562.6:c.770_771delinsAA ENSP00000377192.2:p.Arg257Gln
ENST00000393564.6:c.680_681delinsAA ENSP00000377194.2:p.Arg227Gln
ENST00000393564.7:c.680_681delinsAA ENSP00000377194.2:p.Arg227Gln
ENST00000433845.1:c.680_681delinsAA ENSP00000394690.1:p.Arg227Gln
ENST00000439227.5:c.683_684delinsAA ENSP00000395599.1:p.Arg228Gln
ENST00000439227.6:c.683_684delinsAA ENSP00000395599.2:p.Arg228Gln
ENST00000440967.5:c.683_684delinsAA ENSP00000400648.1:p.Arg228Gln
ENST00000489497.1:n.69_70delinsAA
ENST00000621232.4:c.680_681delinsAA ENSP00000483686.1:p.Arg227Gln
ENST00000696420.1:c.680_681delinsAA ENSP00000512615.1:p.Arg227Gln
ENST00000696421.1:c.680_681delinsAA ENSP00000512616.1:p.Arg227Gln
ENST00000696422.1:c.543_544delinsAA
ENST00000696423.1:c.546_547delinsAA
ENST00000696424.1:c.560_561delinsAA ENSP00000512619.1:p.Arg187Gln
ENST00000696425.1:c.680_681delinsAA ENSP00000512620.1:p.Arg227Gln
ENST00000696426.1:c.680_681delinsAA ENSP00000512621.1:p.Arg227Gln
ENST00000696427.1:c.680_681delinsAA ENSP00000512622.1:p.Arg227Gln
ENST00000696428.1:c.*522_*523delinsAA ENSP00000512623.1:n.*522_*523delinsAA
ENST00000696429.1:c.680_681delinsAA ENSP00000512624.1:p.Arg227Gln
ENST00000696430.1:c.680_681delinsAA ENSP00000512625.1:p.Arg227Gln
XM_005274657.2:c.773_774delinsAA XP_005274714.1:p.Arg258Gln
XM_005274658.2:c.683_684delinsAA XP_005274715.1:p.Arg228Gln
XM_011531132.1:c.773_774delinsAA XP_011529434.1:p.Arg258Gln