Canonical Allele Identifier: CA2513475332

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534435_154534436insGT , CM000685.2:g.154534435_154534436insGT	GRCh38
NC_000023.10:g.153762650_153762651insGT , CM000685.1:g.153762650_153762651insGT	GRCh37
NC_000023.9:g.153415844_153415845insGT	NCBI36
NG_009015.2:g.18137_18138insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.546_547insAC	ENSP00000377194.2:p.Leu183ThrfsTer?
ENST00000439227.6:c.549_550insAC	ENSP00000395599.2:p.Leu184ThrfsTer?
ENST00000696420.1:c.546_547insAC	ENSP00000512615.1:p.Leu183ThrfsTer?
ENST00000696421.1:c.546_547insAC	ENSP00000512616.1:p.Leu183ThrfsTer?
ENST00000696422.1:c.409_410insAC
ENST00000696423.1:c.412_413insAC
ENST00000696424.1:c.426_427insAC	ENSP00000512619.1:p.Leu143ThrfsTer?
ENST00000696425.1:c.546_547insAC	ENSP00000512620.1:p.Leu183ThrfsTer?
ENST00000696426.1:c.546_547insAC	ENSP00000512621.1:p.Leu183ThrfsTer?
ENST00000696427.1:c.546_547insAC	ENSP00000512622.1:p.Leu183ThrfsTer?
ENST00000696428.1:c.*388_*389insAC	ENSP00000512623.1:n.*388_*389insAC
ENST00000696429.1:c.546_547insAC	ENSP00000512624.1:p.Leu183ThrfsTer?
ENST00000696430.1:c.546_547insAC	ENSP00000512625.1:p.Leu183ThrfsTer?
ENST00000393562.10:c.546_547insAC MANE Select	ENSP00000377192.3:p.Leu183ThrfsTer?
ENST00000369620.6:c.546_547insAC	ENSP00000358633.2:p.Leu183ThrfsTer?
ENST00000393562.6:c.636_637insAC	ENSP00000377192.2:p.Leu213ThrfsTer?
ENST00000393564.6:c.546_547insAC	ENSP00000377194.2:p.Leu183ThrfsTer?
ENST00000433845.1:c.546_547insAC	ENSP00000394690.1:p.Leu183ThrfsTer?
ENST00000439227.5:c.549_550insAC	ENSP00000395599.1:p.Leu184ThrfsTer?
ENST00000440967.5:c.549_550insAC	ENSP00000400648.1:p.Leu184ThrfsTer?
ENST00000621232.4:c.546_547insAC	ENSP00000483686.1:p.Leu183ThrfsTer?
NM_000402.4:c.636_637insAC	NP_000393.4:p.Leu213ThrfsTer?
NM_001042351.2:c.546_547insAC	NP_001035810.1:p.Leu183ThrfsTer?
XM_005274657.2:c.639_640insAC	XP_005274714.1:p.Leu214ThrfsTer?
XM_005274658.2:c.549_550insAC	XP_005274715.1:p.Leu184ThrfsTer?
XM_011531132.1:c.639_640insAC	XP_011529434.1:p.Leu214ThrfsTer?
NM_001360016.2:c.546_547insAC MANE Select	NP_001346945.1:p.Leu183ThrfsTer?
NM_001042351.3:c.546_547insAC	NP_001035810.1:p.Leu183ThrfsTer?