Canonical Allele Identifier: CA2566756447

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534391_154534392insAACACC , CM000685.2:g.154534391_154534392insAACACC	GRCh38
NC_000023.10:g.153762606_153762607insAACACC , CM000685.1:g.153762606_153762607insAACACC	GRCh37
NC_000023.9:g.153415800_153415801insAACACC	NCBI36
NG_009015.2:g.18181_18182insGGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.590_591insGGTGTT	ENSP00000377194.2:p.Tyr197Ter
ENST00000439227.6:c.593_594insGGTGTT	ENSP00000395599.2:p.Tyr198Ter
ENST00000696420.1:c.590_591insGGTGTT	ENSP00000512615.1:p.Tyr197Ter
ENST00000696421.1:c.590_591insGGTGTT	ENSP00000512616.1:p.Tyr197Ter
ENST00000696422.1:c.453_454insGGTGTT
ENST00000696423.1:c.456_457insGGTGTT
ENST00000696424.1:c.470_471insGGTGTT	ENSP00000512619.1:p.Tyr157Ter
ENST00000696425.1:c.590_591insGGTGTT	ENSP00000512620.1:p.Tyr197Ter
ENST00000696426.1:c.590_591insGGTGTT	ENSP00000512621.1:p.Tyr197Ter
ENST00000696427.1:c.590_591insGGTGTT	ENSP00000512622.1:p.Tyr197Ter
ENST00000696428.1:c.*432_*433insGGTGTT	ENSP00000512623.1:n.*432_*433insGGTGTT
ENST00000696429.1:c.590_591insGGTGTT	ENSP00000512624.1:p.Tyr197Ter
ENST00000696430.1:c.590_591insGGTGTT	ENSP00000512625.1:p.Tyr197Ter
ENST00000393562.10:c.590_591insGGTGTT MANE Select	ENSP00000377192.3:p.Tyr197Ter
ENST00000369620.6:c.590_591insGGTGTT	ENSP00000358633.2:p.Tyr197Ter
ENST00000393562.6:c.680_681insGGTGTT	ENSP00000377192.2:p.Tyr227Ter
ENST00000393564.6:c.590_591insGGTGTT	ENSP00000377194.2:p.Tyr197Ter
ENST00000433845.1:c.590_591insGGTGTT	ENSP00000394690.1:p.Tyr197Ter
ENST00000439227.5:c.593_594insGGTGTT	ENSP00000395599.1:p.Tyr198Ter
ENST00000440967.5:c.593_594insGGTGTT	ENSP00000400648.1:p.Tyr198Ter
ENST00000621232.4:c.590_591insGGTGTT	ENSP00000483686.1:p.Tyr197Ter
NM_000402.4:c.680_681insGGTGTT	NP_000393.4:p.Tyr227Ter
NM_001042351.2:c.590_591insGGTGTT	NP_001035810.1:p.Tyr197Ter
XM_005274657.2:c.683_684insGGTGTT	XP_005274714.1:p.Tyr228Ter
XM_005274658.2:c.593_594insGGTGTT	XP_005274715.1:p.Tyr198Ter
XM_011531132.1:c.683_684insGGTGTT	XP_011529434.1:p.Tyr228Ter
NM_001360016.2:c.590_591insGGTGTT MANE Select	NP_001346945.1:p.Tyr197Ter
NM_001042351.3:c.590_591insGGTGTT	NP_001035810.1:p.Tyr197Ter