Canonical Allele Identifier: CA2580101761

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722639
• ClinVar RCV Id: RCV002305749
• gnomAD v4: X-154532132-CCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532140_154532188del , CM000685.2:g.154532140_154532188del	GRCh38
NC_000023.10:g.153760355_153760403del , CM000685.1:g.153760355_153760403del	GRCh37
NC_000023.9:g.153413549_153413597del	NCBI36
NG_009015.2:g.20392_20440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1457+7_1458-43del
ENST00000439227.6:c.1460+7_1461-43del
ENST00000696420.1:c.1457+7_1457+55del
ENST00000696421.1:c.1457+7_1457+55del
ENST00000696422.1:c.1320+7_1321-43del
ENST00000696423.1:c.1323+7_1324-43del
ENST00000696424.1:c.1309+7_1310-43del
ENST00000696425.1:c.*370+7_*371-43del
ENST00000696426.1:c.*917+7_*918-43del
ENST00000696427.1:c.*417+7_*418-43del
ENST00000696428.1:c.*1299+7_*1300-43del
ENST00000696429.1:c.1457+7_1458-43del
ENST00000696430.1:c.1457+7_1458-43del
ENST00000393562.10:c.1457+7_1458-43del
ENST00000369620.6:c.1595+7_1596-43del
ENST00000393562.6:c.1547+7_1548-43del
ENST00000393564.6:c.1457+7_1458-43del
ENST00000490651.1:n.685_733del
ENST00000621232.4:c.1457+7_1458-43del
NM_000402.4:c.1547+7_1548-43del
NM_001042351.2:c.1457+7_1458-43del
XM_005274657.2:c.1550+7_1551-43del
XM_005274658.2:c.1460+7_1461-43del
NM_001360016.2:c.1457+7_1458-43del
NM_001042351.3:c.1457+7_1458-43del