Canonical Allele Identifier: CA2695146793

Gene: G6PD

Linked Data

• gnomAD v4: X-154534400-G-GCCACGGCGTCATTGACCTTGCGCGACGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534400_154534401insCCACGGCGTCATTGACCTTGCGCGACGAC , CM000685.2:g.154534400_154534401insCCACGGCGTCATTGACCTTGCGCGACGAC	GRCh38
NC_000023.10:g.153762615_153762616insCCACGGCGTCATTGACCTTGCGCGACGAC , CM000685.1:g.153762615_153762616insCCACGGCGTCATTGACCTTGCGCGACGAC	GRCh37
NC_000023.9:g.153415809_153415810insCCACGGCGTCATTGACCTTGCGCGACGAC	NCBI36
NG_009015.2:g.18172_18173insGTCGTCGCGCAAGGTCAATGACGCCGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000377194.2:p.Asp194GlufsTer31
ENST00000439227.6:c.584_585insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000395599.2:p.Asp195GlufsTer31
ENST00000696420.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512615.1:p.Asp194GlufsTer31
ENST00000696421.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512616.1:p.Asp194GlufsTer31
ENST00000696422.1:c.444_445insGTCGTCGCGCAAGGTCAATGACGCCGTGG
ENST00000696423.1:c.447_448insGTCGTCGCGCAAGGTCAATGACGCCGTGG
ENST00000696424.1:c.461_462insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512619.1:p.Asp154GlufsTer31
ENST00000696425.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512620.1:p.Asp194GlufsTer31
ENST00000696426.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512621.1:p.Asp194GlufsTer31
ENST00000696427.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512622.1:p.Asp194GlufsTer31
ENST00000696428.1:c.*423_*424insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512623.1:n.*423_*424insGTCGTCGCG...
ENST00000696429.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512624.1:p.Asp194GlufsTer31
ENST00000696430.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000512625.1:p.Asp194GlufsTer31
ENST00000393562.10:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG MANE Select	ENSP00000377192.3:p.Asp194GlufsTer31
ENST00000369620.6:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000358633.2:p.Asp194GlufsTer31
ENST00000393562.6:c.671_672insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000377192.2:p.Asp224GlufsTer31
ENST00000393564.6:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000377194.2:p.Asp194GlufsTer31
ENST00000433845.1:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000394690.1:p.Asp194GlufsTer31
ENST00000439227.5:c.584_585insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000395599.1:p.Asp195GlufsTer31
ENST00000440967.5:c.584_585insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000400648.1:p.Asp195GlufsTer31
ENST00000621232.4:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	ENSP00000483686.1:p.Asp194GlufsTer31
NM_000402.4:c.671_672insGTCGTCGCGCAAGGTCAATGACGCCGTGG	NP_000393.4:p.Asp224GlufsTer31
NM_001042351.2:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	NP_001035810.1:p.Asp194GlufsTer31
XM_005274657.2:c.674_675insGTCGTCGCGCAAGGTCAATGACGCCGTGG	XP_005274714.1:p.Asp225GlufsTer31
XM_005274658.2:c.584_585insGTCGTCGCGCAAGGTCAATGACGCCGTGG	XP_005274715.1:p.Asp195GlufsTer31
XM_011531132.1:c.674_675insGTCGTCGCGCAAGGTCAATGACGCCGTGG	XP_011529434.1:p.Asp225GlufsTer31
NM_001360016.2:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG MANE Select	NP_001346945.1:p.Asp194GlufsTer31
NM_001042351.3:c.581_582insGTCGTCGCGCAAGGTCAATGACGCCGTGG	NP_001035810.1:p.Asp194GlufsTer31