Canonical Allele Identifier: CA3275511267
Community Standard Title: NM_001360016.2(G6PD):c.1081_1083delinsATT (p.Ala361Ile)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532771_154532773delinsAAT , CM000685.2:g.154532771_154532773delinsAAT GRCh38
NC_000023.10:g.153760986_153760988delinsAAT , CM000685.1:g.153760986_153760988delinsAAT GRCh37
NC_000023.9:g.153414180_153414182delinsAAT NCBI36
NG_009015.2:g.19800_19802delinsATT

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1081_1083delinsATT MANE Select NP_001346945.1:p.Ala361Ile
ENST00000393562.10:c.1081_1083delinsATT MANE Select ENSP00000377192.3:p.Ala361Ile
NM_000402.4:c.1171_1173delinsATT NP_000393.4:p.Ala391Ile
NM_001042351.2:c.1081_1083delinsATT NP_001035810.1:p.Ala361Ile
NM_001042351.3:c.1081_1083delinsATT NP_001035810.1:p.Ala361Ile
ENST00000369620.6:c.1219_1221delinsATT ENSP00000358633.2:p.Ala407Ile
ENST00000393562.6:c.1171_1173delinsATT ENSP00000377192.2:p.Ala391Ile
ENST00000393564.6:c.1081_1083delinsATT ENSP00000377194.2:p.Ala361Ile
ENST00000393564.7:c.1081_1083delinsATT ENSP00000377194.2:p.Ala361Ile
ENST00000439227.6:c.1084_1086delinsATT ENSP00000395599.2:p.Ala362Ile
ENST00000490651.1:n.302_304delinsATT
ENST00000621232.4:c.1081_1083delinsATT ENSP00000483686.1:p.Ala361Ile
ENST00000696420.1:c.1081_1083delinsATT ENSP00000512615.1:p.Ala361Ile
ENST00000696421.1:c.1081_1083delinsATT ENSP00000512616.1:p.Ala361Ile
ENST00000696422.1:c.944_946delinsATT
ENST00000696423.1:c.947_949delinsATT
ENST00000696424.1:c.933_935delinsATT ENSP00000512619.1:n.933_935delinsATT
ENST00000696425.1:c.894_896delinsATT ENSP00000512620.1:p.Pro299Phe
ENST00000696426.1:c.*541_*543delinsATT ENSP00000512621.1:n.*541_*543delinsATT
ENST00000696427.1:c.*41_*43delinsATT ENSP00000512622.1:n.*41_*43delinsATT
ENST00000696428.1:c.*923_*925delinsATT ENSP00000512623.1:n.*923_*925delinsATT
ENST00000696429.1:c.1081_1083delinsATT ENSP00000512624.1:p.Ala361Ile
ENST00000696430.1:c.1081_1083delinsATT ENSP00000512625.1:p.Ala361Ile
XM_005274657.2:c.1174_1176delinsATT XP_005274714.1:p.Ala392Ile
XM_005274658.2:c.1084_1086delinsATT XP_005274715.1:p.Ala362Ile
XM_011531132.1:c.987_989delinsATT XP_011529434.1:p.Pro330Phe