Canonical Allele Identifier: CA200808

Gene: G6PD

Linked Data

• ClinVar Variation Id: 193829
• ClinVar RCV Id: RCV000174033 ; RCV000405814 ; RCV000646701 ; RCV002260999 ; RCV003917610
• dbSNP Id: rs199586268
• ExAC: X:153760685 GGA / G
• gnomAD v2: X-153760685-GGA-G
• gnomAD v3: X-154532470-GGA-G
• gnomAD v4: X-154532470-GGA-G
• MyVariant Identifiers: chrX:g.153760686_153760687del (hg19) ; chrX:g.154532472_154532473del (hg38) ; chrX:g.154532471_154532472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532476_154532477del , CM000685.2:g.154532476_154532477del	GRCh38
NC_000023.10:g.153760691_153760692del , CM000685.1:g.153760691_153760692del	GRCh37
NC_000023.9:g.153413885_153413886del	NCBI36
NG_009015.2:g.20101_20102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1288-10_1288-9del	ENSP00000377194.2:n.1288-10_1288-9del
ENST00000439227.6:c.1291-10_1291-9del	ENSP00000395599.2:n.1291-10_1291-9del
ENST00000696420.1:c.1288-10_1288-9del	ENSP00000512615.1:n.1288-10_1288-9del
ENST00000696421.1:c.1288-10_1288-9del	ENSP00000512616.1:n.1288-10_1288-9del
ENST00000696422.1:c.1151-10_1151-9del
ENST00000696423.1:c.1154-10_1154-9del
ENST00000696424.1:c.1140-10_1140-9del	ENSP00000512619.1:n.1140-10_1140-9del
ENST00000696425.1:c.*201-10_*201-9del	ENSP00000512620.1:n.*201-10_*201-9del
ENST00000696426.1:c.*748-10_*748-9del	ENSP00000512621.1:n.*748-10_*748-9del
ENST00000696427.1:c.*248-10_*248-9del	ENSP00000512622.1:n.*248-10_*248-9del
ENST00000696428.1:c.*1130-10_*1130-9del	ENSP00000512623.1:n.*1130-10_*1130-9del
ENST00000696429.1:c.1288-10_1288-9del	ENSP00000512624.1:n.1288-10_1288-9del
ENST00000696430.1:c.1288-10_1288-9del	ENSP00000512625.1:n.1288-10_1288-9del
ENST00000393562.10:c.1288-10_1288-9del MANE Select	ENSP00000377192.3:n.1288-10_1288-9del
ENST00000369620.6:c.1426-10_1426-9del	ENSP00000358633.2:n.1426-10_1426-9del
ENST00000393562.6:c.1378-10_1378-9del	ENSP00000377192.2:n.1378-10_1378-9del
ENST00000393564.6:c.1288-10_1288-9del	ENSP00000377194.2:n.1288-10_1288-9del
ENST00000490651.1:n.509-10_509-9del
ENST00000621232.4:c.1288-10_1288-9del	ENSP00000483686.1:n.1288-10_1288-9del
NM_000402.4:c.1378-10_1378-9del	NP_000393.4:n.1378-10_1378-9del
NM_001042351.2:c.1288-10_1288-9del	NP_001035810.1:n.1288-10_1288-9del
XM_005274657.2:c.1381-10_1381-9del	XP_005274714.1:n.1381-10_1381-9del
XM_005274658.2:c.1291-10_1291-9del	XP_005274715.1:n.1291-10_1291-9del
NM_001360016.2:c.1288-10_1288-9del MANE Select	NP_001346945.1:n.1288-10_1288-9del
NM_001042351.3:c.1288-10_1288-9del	NP_001035810.1:n.1288-10_1288-9del