Canonical Allele Identifier: CA2549309149
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534390_154534391insTCCCACGAG , CM000685.2:g.154534390_154534391insTCCCACGAG GRCh38
NC_000023.10:g.153762605_153762606insTCCCACGAG , CM000685.1:g.153762605_153762606insTCCCACGAG GRCh37
NC_000023.9:g.153415799_153415800insTCCCACGAG NCBI36
NG_009015.2:g.18183_18184insTCGTGGGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.592_593insTCGTGGGAC ENSP00000377194.2:p.Tyr197_Arg198insLeuVa...
ENST00000439227.6:c.595_596insTCGTGGGAC ENSP00000395599.2:p.Tyr198_Arg199insLeuVa...
ENST00000696420.1:c.592_593insTCGTGGGAC ENSP00000512615.1:p.Tyr197_Arg198insLeuVa...
ENST00000696421.1:c.592_593insTCGTGGGAC ENSP00000512616.1:p.Tyr197_Arg198insLeuVa...
ENST00000696422.1:c.455_456insTCGTGGGAC
ENST00000696423.1:c.458_459insTCGTGGGAC
ENST00000696424.1:c.472_473insTCGTGGGAC ENSP00000512619.1:p.Tyr157_Arg158insLeuVa...
ENST00000696425.1:c.592_593insTCGTGGGAC ENSP00000512620.1:p.Tyr197_Arg198insLeuVa...
ENST00000696426.1:c.592_593insTCGTGGGAC ENSP00000512621.1:p.Tyr197_Arg198insLeuVa...
ENST00000696427.1:c.592_593insTCGTGGGAC ENSP00000512622.1:p.Tyr197_Arg198insLeuVa...
ENST00000696428.1:c.*434_*435insTCGTGGGAC ENSP00000512623.1:n.*434_*435insTCGTGGGAC...
ENST00000696429.1:c.592_593insTCGTGGGAC ENSP00000512624.1:p.Tyr197_Arg198insLeuVa...
ENST00000696430.1:c.592_593insTCGTGGGAC ENSP00000512625.1:p.Tyr197_Arg198insLeuVa...
ENST00000393562.10:c.592_593insTCGTGGGAC MANE Select ENSP00000377192.3:p.Tyr197_Arg198insLeuVa...
ENST00000369620.6:c.592_593insTCGTGGGAC ENSP00000358633.2:p.Tyr197_Arg198insLeuVa...
ENST00000393562.6:c.682_683insTCGTGGGAC ENSP00000377192.2:p.Tyr227_Arg228insLeuVa...
ENST00000393564.6:c.592_593insTCGTGGGAC ENSP00000377194.2:p.Tyr197_Arg198insLeuVa...
ENST00000433845.1:c.592_593insTCGTGGGAC ENSP00000394690.1:p.Tyr197_Arg198insLeuVa...
ENST00000439227.5:c.595_596insTCGTGGGAC ENSP00000395599.1:p.Tyr198_Arg199insLeuVa...
ENST00000440967.5:c.595_596insTCGTGGGAC ENSP00000400648.1:p.Tyr198_Arg199insLeuVa...
ENST00000621232.4:c.592_593insTCGTGGGAC ENSP00000483686.1:p.Tyr197_Arg198insLeuVa...
NM_000402.4:c.682_683insTCGTGGGAC NP_000393.4:p.Tyr227_Arg228insLeuValGly
NM_001042351.2:c.592_593insTCGTGGGAC NP_001035810.1:p.Tyr197_Arg198insLeuValGl...
XM_005274657.2:c.685_686insTCGTGGGAC XP_005274714.1:p.Tyr228_Arg229insLeuValGl...
XM_005274658.2:c.595_596insTCGTGGGAC XP_005274715.1:p.Tyr198_Arg199insLeuValGl...
XM_011531132.1:c.685_686insTCGTGGGAC XP_011529434.1:p.Tyr228_Arg229insLeuValGl...
NM_001360016.2:c.592_593insTCGTGGGAC MANE Select NP_001346945.1:p.Tyr197_Arg198insLeuValGl...
NM_001042351.3:c.592_593insTCGTGGGAC NP_001035810.1:p.Tyr197_Arg198insLeuValGl...