Canonical Allele Identifier: CA3275525156
Community Standard Title: NM_001360016.2(G6PD):c.646_648delinsCTG (p.Phe216Leu)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534157_154534159delinsCAG , CM000685.2:g.154534157_154534159delinsCAG GRCh38
NC_000023.10:g.153762372_153762374delinsCAG , CM000685.1:g.153762372_153762374delinsCAG GRCh37
NC_000023.9:g.153415566_153415568delinsCAG NCBI36
NG_009015.2:g.18414_18416delinsCTG

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.646_648delinsCTG MANE Select NP_001346945.1:p.Phe216Leu
ENST00000393562.10:c.646_648delinsCTG MANE Select ENSP00000377192.3:p.Phe216Leu
NM_000402.4:c.736_738delinsCTG NP_000393.4:p.Phe246Leu
NM_001042351.2:c.646_648delinsCTG NP_001035810.1:p.Phe216Leu
NM_001042351.3:c.646_648delinsCTG NP_001035810.1:p.Phe216Leu
ENST00000369620.6:c.646_648delinsCTG ENSP00000358633.2:p.Phe216Leu
ENST00000393562.6:c.736_738delinsCTG ENSP00000377192.2:p.Phe246Leu
ENST00000393564.6:c.646_648delinsCTG ENSP00000377194.2:p.Phe216Leu
ENST00000393564.7:c.646_648delinsCTG ENSP00000377194.2:p.Phe216Leu
ENST00000433845.1:c.646_648delinsCTG ENSP00000394690.1:p.Phe216Leu
ENST00000439227.5:c.649_651delinsCTG ENSP00000395599.1:p.Phe217Leu
ENST00000439227.6:c.649_651delinsCTG ENSP00000395599.2:p.Phe217Leu
ENST00000440967.5:c.649_651delinsCTG ENSP00000400648.1:p.Phe217Leu
ENST00000489497.1:n.35_37delinsCTG
ENST00000621232.4:c.646_648delinsCTG ENSP00000483686.1:p.Phe216Leu
ENST00000696420.1:c.646_648delinsCTG ENSP00000512615.1:p.Phe216Leu
ENST00000696421.1:c.646_648delinsCTG ENSP00000512616.1:p.Phe216Leu
ENST00000696422.1:c.509_511delinsCTG
ENST00000696423.1:c.512_514delinsCTG
ENST00000696424.1:c.526_528delinsCTG ENSP00000512619.1:p.Phe176Leu
ENST00000696425.1:c.646_648delinsCTG ENSP00000512620.1:p.Phe216Leu
ENST00000696426.1:c.646_648delinsCTG ENSP00000512621.1:p.Phe216Leu
ENST00000696427.1:c.646_648delinsCTG ENSP00000512622.1:p.Phe216Leu
ENST00000696428.1:c.*488_*490delinsCTG ENSP00000512623.1:n.*488_*490delinsCTG
ENST00000696429.1:c.646_648delinsCTG ENSP00000512624.1:p.Phe216Leu
ENST00000696430.1:c.646_648delinsCTG ENSP00000512625.1:p.Phe216Leu
XM_005274657.2:c.739_741delinsCTG XP_005274714.1:p.Phe247Leu
XM_005274658.2:c.649_651delinsCTG XP_005274715.1:p.Phe217Leu
XM_011531132.1:c.739_741delinsCTG XP_011529434.1:p.Phe247Leu