Canonical Allele Identifier: CA1138583006

Gene: G6PD

Linked Data

• gnomAD v3: X-154534420-A-AC
• gnomAD v4: X-154534420-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534420_154534421insC , CM000685.2:g.154534420_154534421insC	GRCh38
NC_000023.10:g.153762635_153762636insC , CM000685.1:g.153762635_153762636insC	GRCh37
NC_000023.9:g.153415829_153415830insC	NCBI36
NG_009015.2:g.18152_18153insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.561_562insG	ENSP00000377194.2:p.Ser188ValfsTer6
ENST00000439227.6:c.564_565insG	ENSP00000395599.2:p.Ser189ValfsTer6
ENST00000696420.1:c.561_562insG	ENSP00000512615.1:p.Ser188ValfsTer6
ENST00000696421.1:c.561_562insG	ENSP00000512616.1:p.Ser188ValfsTer6
ENST00000696422.1:c.424_425insG
ENST00000696423.1:c.427_428insG
ENST00000696424.1:c.441_442insG	ENSP00000512619.1:p.Ser148ValfsTer6
ENST00000696425.1:c.561_562insG	ENSP00000512620.1:p.Ser188ValfsTer6
ENST00000696426.1:c.561_562insG	ENSP00000512621.1:p.Ser188ValfsTer6
ENST00000696427.1:c.561_562insG	ENSP00000512622.1:p.Ser188ValfsTer6
ENST00000696428.1:c.*403_*404insG	ENSP00000512623.1:n.*403_*404insG
ENST00000696429.1:c.561_562insG	ENSP00000512624.1:p.Ser188ValfsTer6
ENST00000696430.1:c.561_562insG	ENSP00000512625.1:p.Ser188ValfsTer6
ENST00000393562.10:c.561_562insG MANE Select	ENSP00000377192.3:p.Ser188ValfsTer6
ENST00000369620.6:c.561_562insG	ENSP00000358633.2:p.Ser188ValfsTer6
ENST00000393562.6:c.651_652insG	ENSP00000377192.2:p.Ser218ValfsTer6
ENST00000393564.6:c.561_562insG	ENSP00000377194.2:p.Ser188ValfsTer6
ENST00000433845.1:c.561_562insG	ENSP00000394690.1:p.Ser188ValfsTer6
ENST00000439227.5:c.564_565insG	ENSP00000395599.1:p.Ser189ValfsTer6
ENST00000440967.5:c.564_565insG	ENSP00000400648.1:p.Ser189ValfsTer6
ENST00000621232.4:c.561_562insG	ENSP00000483686.1:p.Ser188ValfsTer6
NM_000402.4:c.651_652insG	NP_000393.4:p.Ser218ValfsTer6
NM_001042351.2:c.561_562insG	NP_001035810.1:p.Ser188ValfsTer6
XM_005274657.2:c.654_655insG	XP_005274714.1:p.Ser219ValfsTer6
XM_005274658.2:c.564_565insG	XP_005274715.1:p.Ser189ValfsTer6
XM_011531132.1:c.654_655insG	XP_011529434.1:p.Ser219ValfsTer6
NM_001360016.2:c.561_562insG MANE Select	NP_001346945.1:p.Ser188ValfsTer6
NM_001042351.3:c.561_562insG	NP_001035810.1:p.Ser188ValfsTer6