Canonical Allele Identifier: CA2697544876

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2745959
• ClinVar RCV Id: RCV003509325

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532392_154532396del , CM000685.2:g.154532392_154532396del	GRCh38
NC_000023.10:g.153760607_153760611del , CM000685.1:g.153760607_153760611del	GRCh37
NC_000023.9:g.153413801_153413805del	NCBI36
NG_009015.2:g.20177_20181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1354_1358del	ENSP00000377194.2:p.Phe452AlafsTer7
ENST00000439227.6:c.1357_1361del	ENSP00000395599.2:p.Phe453AlafsTer7
ENST00000696420.1:c.1354_1358del	ENSP00000512615.1:p.Phe452AlafsTer7
ENST00000696421.1:c.1354_1358del	ENSP00000512616.1:p.Phe452AlafsTer7
ENST00000696422.1:c.1217_1221del
ENST00000696423.1:c.1220_1224del
ENST00000696424.1:c.1206_1210del	ENSP00000512619.1:n.1206_1210del
ENST00000696425.1:c.*267_*271del	ENSP00000512620.1:n.*267_*271del
ENST00000696426.1:c.*814_*818del	ENSP00000512621.1:n.*814_*818del
ENST00000696427.1:c.*314_*318del	ENSP00000512622.1:n.*314_*318del
ENST00000696428.1:c.*1196_*1200del	ENSP00000512623.1:n.*1196_*1200del
ENST00000696429.1:c.1354_1358del	ENSP00000512624.1:p.Phe452AlafsTer7
ENST00000696430.1:c.1354_1358del	ENSP00000512625.1:p.Phe452AlafsTer7
ENST00000393562.10:c.1354_1358del MANE Select	ENSP00000377192.3:p.Phe452AlafsTer7
ENST00000369620.6:c.1492_1496del	ENSP00000358633.2:p.Phe498AlafsTer7
ENST00000393562.6:c.1444_1448del	ENSP00000377192.2:p.Phe482AlafsTer7
ENST00000393564.6:c.1354_1358del	ENSP00000377194.2:p.Phe452AlafsTer7
ENST00000490651.1:n.575_579del
ENST00000621232.4:c.1354_1358del	ENSP00000483686.1:p.Phe452AlafsTer7
NM_000402.4:c.1444_1448del	NP_000393.4:p.Phe482AlafsTer7
NM_001042351.2:c.1354_1358del	NP_001035810.1:p.Phe452AlafsTer7
XM_005274657.2:c.1447_1451del	XP_005274714.1:p.Phe483AlafsTer7
XM_005274658.2:c.1357_1361del	XP_005274715.1:p.Phe453AlafsTer7
NM_001360016.2:c.1354_1358del MANE Select	NP_001346945.1:p.Phe452AlafsTer7
NM_001042351.3:c.1354_1358del	NP_001035810.1:p.Phe452AlafsTer7