Canonical Allele Identifier: CA2466723396
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532531_154532542delinsGCCCACCCTCCA , CM000685.2:g.154532531_154532542delinsGCCCACCCTCCA GRCh38
NC_000023.10:g.153760746_153760757delinsGCCCACCCTCCA , CM000685.1:g.153760746_153760757delinsGCCCACCCTCCA GRCh37
NC_000023.9:g.153413940_153413951delinsGCCCACCCTCCA NCBI36
NG_009015.2:g.20031_20042delinsTGGAGGGTGGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000377194.2:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000439227.6:c.1290+25_1290+36delinsTGGAGGGTGGGC ENSP00000395599.2:n.1290+25_1290+36delinsTGGAGGGTGGGC
ENST00000696420.1:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000512615.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000696421.1:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000512616.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000696422.1:c.1150+25_1150+36delinsTGGAGGGTGGGC
ENST00000696423.1:c.1153+25_1153+36delinsTGGAGGGTGGGC
ENST00000696424.1:c.1139+25_1139+36delinsTGGAGGGTGGGC ENSP00000512619.1:n.1139+25_1139+36delinsTGGAGGGTGGGC
ENST00000696425.1:c.*200+25_*200+36delinsTGGAGGGTGGGC ENSP00000512620.1:n.*200+25_*200+36delinsTGGAGGGTGGGC
ENST00000696426.1:c.*747+25_*747+36delinsTGGAGGGTGGGC ENSP00000512621.1:n.*747+25_*747+36delinsTGGAGGGTGGGC
ENST00000696427.1:c.*247+25_*247+36delinsTGGAGGGTGGGC ENSP00000512622.1:n.*247+25_*247+36delinsTGGAGGGTGGGC
ENST00000696428.1:c.*1129+25_*1129+36delinsTGGAGGGTGGGC ENSP00000512623.1:n.*1129+25_*1129+36delinsTGGAGGGTGGGC
ENST00000696429.1:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000512624.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000696430.1:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000512625.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000393562.10:c.1287+25_1287+36delinsTGGAGGGTGGGC MANE Select ENSP00000377192.3:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000369620.6:c.1425+25_1425+36delinsTGGAGGGTGGGC ENSP00000358633.2:n.1425+25_1425+36delinsTGGAGGGTGGGC
ENST00000393562.6:c.1377+25_1377+36delinsTGGAGGGTGGGC ENSP00000377192.2:n.1377+25_1377+36delinsTGGAGGGTGGGC
ENST00000393564.6:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000377194.2:n.1287+25_1287+36delinsTGGAGGGTGGGC
ENST00000490651.1:n.508+25_508+36delinsTGGAGGGTGGGC
ENST00000621232.4:c.1287+25_1287+36delinsTGGAGGGTGGGC ENSP00000483686.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
NM_000402.4:c.1377+25_1377+36delinsTGGAGGGTGGGC NP_000393.4:n.1377+25_1377+36delinsTGGAGGGTGGGC
NM_001042351.2:c.1287+25_1287+36delinsTGGAGGGTGGGC NP_001035810.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
XM_005274657.2:c.1380+25_1380+36delinsTGGAGGGTGGGC XP_005274714.1:n.1380+25_1380+36delinsTGGAGGGTGGGC
XM_005274658.2:c.1290+25_1290+36delinsTGGAGGGTGGGC XP_005274715.1:n.1290+25_1290+36delinsTGGAGGGTGGGC
NM_001360016.2:c.1287+25_1287+36delinsTGGAGGGTGGGC MANE Select NP_001346945.1:n.1287+25_1287+36delinsTGGAGGGTGGGC
NM_001042351.3:c.1287+25_1287+36delinsTGGAGGGTGGGC NP_001035810.1:n.1287+25_1287+36delinsTGGAGGGTGGGC