Canonical Allele Identifier: CA10566210

Gene: G6PD

Linked Data

• dbSNP Id: rs782498284
• ExAC: X:153762604 C / CTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT
• MyVariant Identifiers: chrX:g.153762604_153762605insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT (hg19) ; chrX:g.154534389_154534390insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534389_154534390insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT , CM000685.2:g.154534389_154534390insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT	GRCh38
NC_000023.10:g.153762604_153762605insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT , CM000685.1:g.153762604_153762605insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT	GRCh37
NC_000023.9:g.153415798_153415799insTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTT	NCBI36
NG_009015.2:g.18183_18184insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000377194.2:p.Arg198GlnfsTer32
ENST00000439227.6:c.595_596insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000395599.2:p.Arg199GlnfsTer32
ENST00000696420.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512615.1:p.Arg198GlnfsTer32
ENST00000696421.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512616.1:p.Arg198GlnfsTer32
ENST00000696422.1:c.455_456insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA
ENST00000696423.1:c.458_459insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA
ENST00000696424.1:c.472_473insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512619.1:p.Arg158GlnfsTer32
ENST00000696425.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512620.1:p.Arg198GlnfsTer32
ENST00000696426.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512621.1:p.Arg198GlnfsTer32
ENST00000696427.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512622.1:p.Arg198GlnfsTer32
ENST00000696428.1:c.*434_*435insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512623.1:n.*434_*435insAAGATGATG...
ENST00000696429.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512624.1:p.Arg198GlnfsTer32
ENST00000696430.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000512625.1:p.Arg198GlnfsTer32
ENST00000393562.10:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA MANE Select	ENSP00000377192.3:p.Arg198GlnfsTer32
ENST00000369620.6:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000358633.2:p.Arg198GlnfsTer32
ENST00000393562.6:c.682_683insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000377192.2:p.Arg228GlnfsTer32
ENST00000393564.6:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000377194.2:p.Arg198GlnfsTer32
ENST00000433845.1:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000394690.1:p.Arg198GlnfsTer32
ENST00000439227.5:c.595_596insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000395599.1:p.Arg199GlnfsTer32
ENST00000440967.5:c.595_596insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000400648.1:p.Arg199GlnfsTer32
ENST00000621232.4:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	ENSP00000483686.1:p.Arg198GlnfsTer32
NM_000402.4:c.682_683insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	NP_000393.4:p.Arg228GlnfsTer32
NM_001042351.2:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	NP_001035810.1:p.Arg198GlnfsTer32
XM_005274657.2:c.685_686insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	XP_005274714.1:p.Arg229GlnfsTer32
XM_005274658.2:c.595_596insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	XP_005274715.1:p.Arg199GlnfsTer32
XM_011531132.1:c.685_686insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	XP_011529434.1:p.Arg229GlnfsTer32
NM_001360016.2:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA MANE Select	NP_001346945.1:p.Arg198GlnfsTer32
NM_001042351.3:c.592_593insAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGA	NP_001035810.1:p.Arg198GlnfsTer32