Canonical Allele Identifier: CA2530508131

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534392_154534393insCGGGGGGTGAGA , CM000685.2:g.154534392_154534393insCGGGGGGTGAGA	GRCh38
NC_000023.10:g.153762607_153762608insCGGGGGGTGAGA , CM000685.1:g.153762607_153762608insCGGGGGGTGAGA	GRCh37
NC_000023.9:g.153415801_153415802insCGGGGGGTGAGA	NCBI36
NG_009015.2:g.18180_18181insTCTCACCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.589_590insTCTCACCCCCCG	ENSP00000377194.2:p.Tyr197delinsPheSerProProAsp
ENST00000439227.6:c.592_593insTCTCACCCCCCG	ENSP00000395599.2:p.Tyr198delinsPheSerProProAsp
ENST00000696420.1:c.589_590insTCTCACCCCCCG	ENSP00000512615.1:p.Tyr197delinsPheSerProProAsp
ENST00000696421.1:c.589_590insTCTCACCCCCCG	ENSP00000512616.1:p.Tyr197delinsPheSerProProAsp
ENST00000696422.1:c.452_453insTCTCACCCCCCG
ENST00000696423.1:c.455_456insTCTCACCCCCCG
ENST00000696424.1:c.469_470insTCTCACCCCCCG	ENSP00000512619.1:p.Tyr157delinsPheSerProProAsp
ENST00000696425.1:c.589_590insTCTCACCCCCCG	ENSP00000512620.1:p.Tyr197delinsPheSerProProAsp
ENST00000696426.1:c.589_590insTCTCACCCCCCG	ENSP00000512621.1:p.Tyr197delinsPheSerProProAsp
ENST00000696427.1:c.589_590insTCTCACCCCCCG	ENSP00000512622.1:p.Tyr197delinsPheSerProProAsp
ENST00000696428.1:c.*431_*432insTCTCACCCCCCG	ENSP00000512623.1:n.*431_*432insTCTCACCCCCCG
ENST00000696429.1:c.589_590insTCTCACCCCCCG	ENSP00000512624.1:p.Tyr197delinsPheSerProProAsp
ENST00000696430.1:c.589_590insTCTCACCCCCCG	ENSP00000512625.1:p.Tyr197delinsPheSerProProAsp
ENST00000393562.10:c.589_590insTCTCACCCCCCG MANE Select	ENSP00000377192.3:p.Tyr197delinsPheSerProProAsp
ENST00000369620.6:c.589_590insTCTCACCCCCCG	ENSP00000358633.2:p.Tyr197delinsPheSerProProAsp
ENST00000393562.6:c.679_680insTCTCACCCCCCG	ENSP00000377192.2:p.Tyr227delinsPheSerProProAsp
ENST00000393564.6:c.589_590insTCTCACCCCCCG	ENSP00000377194.2:p.Tyr197delinsPheSerProProAsp
ENST00000433845.1:c.589_590insTCTCACCCCCCG	ENSP00000394690.1:p.Tyr197delinsPheSerProProAsp
ENST00000439227.5:c.592_593insTCTCACCCCCCG	ENSP00000395599.1:p.Tyr198delinsPheSerProProAsp
ENST00000440967.5:c.592_593insTCTCACCCCCCG	ENSP00000400648.1:p.Tyr198delinsPheSerProProAsp
ENST00000621232.4:c.589_590insTCTCACCCCCCG	ENSP00000483686.1:p.Tyr197delinsPheSerProProAsp
NM_000402.4:c.679_680insTCTCACCCCCCG	NP_000393.4:p.Tyr227delinsPheSerProProAsp
NM_001042351.2:c.589_590insTCTCACCCCCCG	NP_001035810.1:p.Tyr197delinsPheSerProProAsp
XM_005274657.2:c.682_683insTCTCACCCCCCG	XP_005274714.1:p.Tyr228delinsPheSerProProAsp
XM_005274658.2:c.592_593insTCTCACCCCCCG	XP_005274715.1:p.Tyr198delinsPheSerProProAsp
XM_011531132.1:c.682_683insTCTCACCCCCCG	XP_011529434.1:p.Tyr228delinsPheSerProProAsp
NM_001360016.2:c.589_590insTCTCACCCCCCG MANE Select	NP_001346945.1:p.Tyr197delinsPheSerProProAsp
NM_001042351.3:c.589_590insTCTCACCCCCCG	NP_001035810.1:p.Tyr197delinsPheSerProProAsp