Canonical Allele Identifier: CA1138582428

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2992328
• ClinVar RCV Id: RCV003855455
• dbSNP Id: rs2070343514
• gnomAD v3: X-154532099-T-TGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCC
• gnomAD v4: X-154532099-T-TGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532101_154532152dup , CM000685.2:g.154532101_154532152dup	GRCh38
NC_000023.10:g.153760316_153760367dup , CM000685.1:g.153760316_153760367dup	GRCh37
NC_000023.9:g.153413510_153413561dup	NCBI36
NG_009015.2:g.20422_20473dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1457+37_1458-10dup	ENSP00000377194.2:n.1457+37_1458-10dup
ENST00000439227.6:c.1460+37_1461-10dup	ENSP00000395599.2:n.1460+37_1461-10dup
ENST00000696420.1:c.1457+37_1457+88dup	ENSP00000512615.1:n.1457+37_1457+88dup
ENST00000696421.1:c.1457+37_1457+88dup	ENSP00000512616.1:n.1457+37_1457+88dup
ENST00000696422.1:c.1320+37_1321-10dup
ENST00000696423.1:c.1323+37_1324-10dup
ENST00000696424.1:c.1309+37_1310-10dup	ENSP00000512619.1:n.1309+37_1310-10dup
ENST00000696425.1:c.*370+37_*371-10dup	ENSP00000512620.1:n.*370+37_*371-10dup
ENST00000696426.1:c.*917+37_*918-10dup	ENSP00000512621.1:n.*917+37_*918-10dup
ENST00000696427.1:c.*417+37_*418-10dup	ENSP00000512622.1:n.*417+37_*418-10dup
ENST00000696428.1:c.*1299+37_*1300-10dup	ENSP00000512623.1:n.*1299+37_*1300-10dup
ENST00000696429.1:c.1457+37_1458-10dup	ENSP00000512624.1:n.1457+37_1458-10dup
ENST00000696430.1:c.1457+37_1458-10dup	ENSP00000512625.1:n.1457+37_1458-10dup
ENST00000393562.10:c.1457+37_1458-10dup MANE Select	ENSP00000377192.3:n.1457+37_1458-10dup
ENST00000369620.6:c.1595+37_1596-10dup	ENSP00000358633.2:n.1595+37_1596-10dup
ENST00000393562.6:c.1547+37_1548-10dup	ENSP00000377192.2:n.1547+37_1548-10dup
ENST00000393564.6:c.1457+37_1458-10dup	ENSP00000377194.2:n.1457+37_1458-10dup
ENST00000490651.1:n.715_766dup
ENST00000621232.4:c.1457+37_1458-10dup	ENSP00000483686.1:n.1457+37_1458-10dup
NM_000402.4:c.1547+37_1548-10dup	NP_000393.4:n.1547+37_1548-10dup
NM_001042351.2:c.1457+37_1458-10dup	NP_001035810.1:n.1457+37_1458-10dup
XM_005274657.2:c.1550+37_1551-10dup	XP_005274714.1:n.1550+37_1551-10dup
XM_005274658.2:c.1460+37_1461-10dup	XP_005274715.1:n.1460+37_1461-10dup
NM_001360016.2:c.1457+37_1458-10dup MANE Select	NP_001346945.1:n.1457+37_1458-10dup
NM_001042351.3:c.1457+37_1458-10dup	NP_001035810.1:n.1457+37_1458-10dup