Canonical Allele Identifier: CA3275511294
Community Standard Title: NM_001360016.2(G6PD):c.1082_1083delinsTA (p.Ala361Val)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532771_154532772delinsTA , CM000685.2:g.154532771_154532772delinsTA GRCh38
NC_000023.10:g.153760986_153760987delinsTA , CM000685.1:g.153760986_153760987delinsTA GRCh37
NC_000023.9:g.153414180_153414181delinsTA NCBI36
NG_009015.2:g.19801_19802delinsTA

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1082_1083delinsTA MANE Select NP_001346945.1:p.Ala361Val
ENST00000393562.10:c.1082_1083delinsTA MANE Select ENSP00000377192.3:p.Ala361Val
NM_000402.4:c.1172_1173delinsTA NP_000393.4:p.Ala391Val
NM_001042351.2:c.1082_1083delinsTA NP_001035810.1:p.Ala361Val
NM_001042351.3:c.1082_1083delinsTA NP_001035810.1:p.Ala361Val
ENST00000369620.6:c.1220_1221delinsTA ENSP00000358633.2:p.Ala407Val
ENST00000393562.6:c.1172_1173delinsTA ENSP00000377192.2:p.Ala391Val
ENST00000393564.6:c.1082_1083delinsTA ENSP00000377194.2:p.Ala361Val
ENST00000393564.7:c.1082_1083delinsTA ENSP00000377194.2:p.Ala361Val
ENST00000439227.6:c.1085_1086delinsTA ENSP00000395599.2:p.Ala362Val
ENST00000490651.1:n.303_304delinsTA
ENST00000621232.4:c.1082_1083delinsTA ENSP00000483686.1:p.Ala361Val
ENST00000696420.1:c.1082_1083delinsTA ENSP00000512615.1:p.Ala361Val
ENST00000696421.1:c.1082_1083delinsTA ENSP00000512616.1:p.Ala361Val
ENST00000696422.1:c.945_946delinsTA
ENST00000696423.1:c.948_949delinsTA
ENST00000696424.1:c.934_935delinsTA ENSP00000512619.1:n.934_935delinsTA
ENST00000696425.1:c.895_896delinsTA ENSP00000512620.1:p.Pro299Tyr
ENST00000696426.1:c.*542_*543delinsTA ENSP00000512621.1:n.*542_*543delinsTA
ENST00000696427.1:c.*42_*43delinsTA ENSP00000512622.1:n.*42_*43delinsTA
ENST00000696428.1:c.*924_*925delinsTA ENSP00000512623.1:n.*924_*925delinsTA
ENST00000696429.1:c.1082_1083delinsTA ENSP00000512624.1:p.Ala361Val
ENST00000696430.1:c.1082_1083delinsTA ENSP00000512625.1:p.Ala361Val
XM_005274657.2:c.1175_1176delinsTA XP_005274714.1:p.Ala392Val
XM_005274658.2:c.1085_1086delinsTA XP_005274715.1:p.Ala362Val
XM_011531132.1:c.988_989delinsTA XP_011529434.1:p.Pro330Tyr