Canonical Allele Identifier: CA121042

Gene: G6PD

Linked Data

• ClinVar Variation Id: 10411
• ClinVar RCV Id: RCV001509137
• dbSNP Id: rs587776730
• MyVariant Identifiers: chrX:g.153761228_153761251del (hg19) ; chrX:g.154533013_154533036del (hg38)
• PubMed: PMID:8241497

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533017_154533040del , CM000685.2:g.154533017_154533040del	GRCh38
NC_000023.10:g.153761232_153761255del , CM000685.1:g.153761232_153761255del	GRCh37
NC_000023.9:g.153414426_153414449del	NCBI36
NG_009015.2:g.19537_19560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.957_980del	ENSP00000377194.2:p.Lys320_Thr327del
ENST00000439227.6:c.960_983del	ENSP00000395599.2:p.Lys321_Thr328del
ENST00000696420.1:c.957_980del	ENSP00000512615.1:p.Lys320_Thr327del
ENST00000696421.1:c.957_980del	ENSP00000512616.1:p.Lys320_Thr327del
ENST00000696422.1:c.820_843del
ENST00000696423.1:c.823_846del
ENST00000696424.1:c.809_832del	ENSP00000512619.1:n.809_832del
ENST00000696425.1:c.865-234_865-211del	ENSP00000512620.1:n.865-234_865-211del
ENST00000696426.1:c.*417_*440del	ENSP00000512621.1:n.*417_*440del
ENST00000696427.1:c.964_987del	ENSP00000512622.1:p.Gln322_His329del
ENST00000696428.1:c.*799_*822del	ENSP00000512623.1:n.*799_*822del
ENST00000696429.1:c.957_980del	ENSP00000512624.1:p.Lys320_Thr327del
ENST00000696430.1:c.957_980del	ENSP00000512625.1:p.Lys320_Thr327del
ENST00000393562.10:c.957_980del MANE Select	ENSP00000377192.3:p.Lys320_Thr327del
ENST00000369620.6:c.1095_1118del	ENSP00000358633.2:p.Lys366_Thr373del
ENST00000393562.6:c.1047_1070del	ENSP00000377192.2:p.Lys350_Thr357del
ENST00000393564.6:c.957_980del	ENSP00000377194.2:p.Lys320_Thr327del
ENST00000439227.5:c.960_983del	ENSP00000395599.1:p.Lys321_Thr328del
ENST00000490651.1:n.39_62del
ENST00000621232.4:c.957_980del	ENSP00000483686.1:p.Lys320_Thr327del
NM_000402.4:c.1047_1070del	NP_000393.4:p.Lys350_Thr357del
NM_001042351.2:c.957_980del	NP_001035810.1:p.Lys320_Thr327del
XM_005274657.2:c.1050_1073del	XP_005274714.1:p.Lys351_Thr358del
XM_005274658.2:c.960_983del	XP_005274715.1:p.Lys321_Thr328del
XM_011531132.1:c.958-234_958-211del	XP_011529434.1:n.958-234_958-211del
NM_001360016.2:c.957_980del MANE Select	NP_001346945.1:p.Lys320_Thr327del
NM_001042351.3:c.957_980del	NP_001035810.1:p.Lys320_Thr327del