Canonical Allele Identifier: CA2466723561

Gene: G6PD

Linked Data

• dbSNP Id: rs2070358415

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532965_154532966del , CM000685.2:g.154532965_154532966del	GRCh38
NC_000023.10:g.153761180_153761181del , CM000685.1:g.153761180_153761181del	GRCh37
NC_000023.9:g.153414374_153414375del	NCBI36
NG_009015.2:g.19608_19609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1028_1029del	ENSP00000377194.2:p.Tyr343CysfsTer4
ENST00000439227.6:c.1031_1032del	ENSP00000395599.2:p.Tyr344CysfsTer4
ENST00000696420.1:c.1028_1029del	ENSP00000512615.1:p.Tyr343CysfsTer4
ENST00000696421.1:c.1028_1029del	ENSP00000512616.1:p.Tyr343CysfsTer4
ENST00000696422.1:c.891_892del
ENST00000696423.1:c.894_895del
ENST00000696424.1:c.880_881del	ENSP00000512619.1:n.880_881del
ENST00000696425.1:c.865-163_865-162del	ENSP00000512620.1:n.865-163_865-162del
ENST00000696426.1:c.*488_*489del	ENSP00000512621.1:n.*488_*489del
ENST00000696427.1:c.1035_1036del	ENSP00000512622.1:p.Cys346TrpfsTer19
ENST00000696428.1:c.*870_*871del	ENSP00000512623.1:n.*870_*871del
ENST00000696429.1:c.1028_1029del	ENSP00000512624.1:p.Tyr343CysfsTer4
ENST00000696430.1:c.1028_1029del	ENSP00000512625.1:p.Tyr343CysfsTer4
ENST00000393562.10:c.1028_1029del MANE Select	ENSP00000377192.3:p.Tyr343CysfsTer4
ENST00000369620.6:c.1166_1167del	ENSP00000358633.2:p.Tyr389CysfsTer4
ENST00000393562.6:c.1118_1119del	ENSP00000377192.2:p.Tyr373CysfsTer4
ENST00000393564.6:c.1028_1029del	ENSP00000377194.2:p.Tyr343CysfsTer4
ENST00000490651.1:n.110_111del
ENST00000621232.4:c.1028_1029del	ENSP00000483686.1:p.Tyr343CysfsTer4
NM_000402.4:c.1118_1119del	NP_000393.4:p.Tyr373CysfsTer4
NM_001042351.2:c.1028_1029del	NP_001035810.1:p.Tyr343CysfsTer4
XM_005274657.2:c.1121_1122del	XP_005274714.1:p.Tyr374CysfsTer4
XM_005274658.2:c.1031_1032del	XP_005274715.1:p.Tyr344CysfsTer4
XM_011531132.1:c.958-163_958-162del	XP_011529434.1:n.958-163_958-162del
NM_001360016.2:c.1028_1029del MANE Select	NP_001346945.1:p.Tyr343CysfsTer4
NM_001042351.3:c.1028_1029del	NP_001035810.1:p.Tyr343CysfsTer4