Canonical Allele Identifier: CA10566101

Gene: G6PD

Linked Data

• dbSNP Id: rs782087913
• ExAC: X:153761213 GACCCGC / G
• gnomAD v2: X-153761213-GACCCGC-G
• MyVariant Identifiers: chrX:g.153761214_153761219del (hg19) ; chrX:g.154532999_154533004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532999_154533004del , CM000685.2:g.154532999_154533004del	GRCh38
NC_000023.10:g.153761214_153761219del , CM000685.1:g.153761214_153761219del	GRCh37
NC_000023.9:g.153414408_153414413del	NCBI36
NG_009015.2:g.19569_19574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.989_994del	ENSP00000377194.2:p.Arg330_Ser332delinsPro
ENST00000439227.6:c.992_997del	ENSP00000395599.2:p.Arg331_Ser333delinsPro
ENST00000696420.1:c.989_994del	ENSP00000512615.1:p.Arg330_Ser332delinsPro
ENST00000696421.1:c.989_994del	ENSP00000512616.1:p.Arg330_Ser332delinsPro
ENST00000696422.1:c.852_857del
ENST00000696423.1:c.855_860del
ENST00000696424.1:c.841_846del	ENSP00000512619.1:n.841_846del
ENST00000696425.1:c.865-202_865-197del	ENSP00000512620.1:n.865-202_865-197del
ENST00000696426.1:c.*449_*454del	ENSP00000512621.1:n.*449_*454del
ENST00000696427.1:c.996_1001del	ENSP00000512622.1:p.Arg333_Val334del
ENST00000696428.1:c.*831_*836del	ENSP00000512623.1:n.*831_*836del
ENST00000696429.1:c.989_994del	ENSP00000512624.1:p.Arg330_Ser332delinsPro
ENST00000696430.1:c.989_994del	ENSP00000512625.1:p.Arg330_Ser332delinsPro
ENST00000393562.10:c.989_994del MANE Select	ENSP00000377192.3:p.Arg330_Ser332delinsPro
ENST00000369620.6:c.1127_1132del	ENSP00000358633.2:p.Arg376_Ser378delinsPro
ENST00000393562.6:c.1079_1084del	ENSP00000377192.2:p.Arg360_Ser362delinsPro
ENST00000393564.6:c.989_994del	ENSP00000377194.2:p.Arg330_Ser332delinsPro
ENST00000439227.5:c.992_997del	ENSP00000395599.1:p.Arg331_Ser333delinsPro
ENST00000490651.1:n.71_76del
ENST00000621232.4:c.989_994del	ENSP00000483686.1:p.Arg330_Ser332delinsPro
NM_000402.4:c.1079_1084del	NP_000393.4:p.Arg360_Ser362delinsPro
NM_001042351.2:c.989_994del	NP_001035810.1:p.Arg330_Ser332delinsPro
XM_005274657.2:c.1082_1087del	XP_005274714.1:p.Arg361_Ser363delinsPro
XM_005274658.2:c.992_997del	XP_005274715.1:p.Arg331_Ser333delinsPro
XM_011531132.1:c.958-202_958-197del	XP_011529434.1:n.958-202_958-197del
NM_001360016.2:c.989_994del MANE Select	NP_001346945.1:p.Arg330_Ser332delinsPro
NM_001042351.3:c.989_994del	NP_001035810.1:p.Arg330_Ser332delinsPro