Canonical Allele Identifier: CA2466723218

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532165_154532186delinsCCCAGCCCCCACCCTTTCCTCA , CM000685.2:g.154532165_154532186delinsCCCAGCCCCCACCCTTTCCTCA	GRCh38
NC_000023.10:g.153760380_153760401delinsCCCAGCCCCCACCCTTTCCTCA , CM000685.1:g.153760380_153760401delinsCCCAGCCCCCACCCTTTCCTCA	GRCh37
NC_000023.9:g.153413574_153413595delinsCCCAGCCCCCACCCTTTCCTCA	NCBI36
NG_009015.2:g.20387_20408delinsTGAGGAAAGGGTGGGGGCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000377194.2:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000439227.6:c.1460+2_1460+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000395599.2:n.1460+2_1460+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696420.1:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512615.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696421.1:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512616.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696422.1:c.1320+2_1320+23delinsTGAGGAAAGGGTGGGGGCTGGG
ENST00000696423.1:c.1323+2_1323+23delinsTGAGGAAAGGGTGGGGGCTGGG
ENST00000696424.1:c.1309+2_1309+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512619.1:n.1309+2_1309+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696425.1:c.*370+2_*370+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512620.1:n.*370+2_*370+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696426.1:c.*917+2_*917+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512621.1:n.*917+2_*917+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696427.1:c.*417+2_*417+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512622.1:n.*417+2_*417+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696428.1:c.*1299+2_*1299+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512623.1:n.*1299+2_*1299+23delinsTGAGGAAAGGGTGGGGGCT...
ENST00000696429.1:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512624.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000696430.1:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000512625.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000393562.10:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG MANE Select	ENSP00000377192.3:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000369620.6:c.1595+2_1595+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000358633.2:n.1595+2_1595+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000393562.6:c.1547+2_1547+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000377192.2:n.1547+2_1547+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000393564.6:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000377194.2:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
ENST00000490651.1:n.680_701delinsTGAGGAAAGGGTGGGGGCTGGG
ENST00000621232.4:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	ENSP00000483686.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGG...
NM_000402.4:c.1547+2_1547+23delinsTGAGGAAAGGGTGGGGGCTGGG	NP_000393.4:n.1547+2_1547+23delinsTGAGGAAAGGGTGGGGGCTGGG
NM_001042351.2:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	NP_001035810.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG
XM_005274657.2:c.1550+2_1550+23delinsTGAGGAAAGGGTGGGGGCTGGG	XP_005274714.1:n.1550+2_1550+23delinsTGAGGAAAGGGTGGGGGCTGGG
XM_005274658.2:c.1460+2_1460+23delinsTGAGGAAAGGGTGGGGGCTGGG	XP_005274715.1:n.1460+2_1460+23delinsTGAGGAAAGGGTGGGGGCTGGG
NM_001360016.2:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG MANE Select	NP_001346945.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG
NM_001042351.3:c.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG	NP_001035810.1:n.1457+2_1457+23delinsTGAGGAAAGGGTGGGGGCTGGG