Canonical Allele Identifier: CA3275528027
Community Standard Title: NM_001360016.2(G6PD):c.517_519delinsCTT (p.Phe173Leu)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534463_154534465delinsAAG , CM000685.2:g.154534463_154534465delinsAAG GRCh38
NC_000023.10:g.153762678_153762680delinsAAG , CM000685.1:g.153762678_153762680delinsAAG GRCh37
NC_000023.9:g.153415872_153415874delinsAAG NCBI36
NG_009015.2:g.18108_18110delinsCTT

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.517_519delinsCTT MANE Select NP_001346945.1:p.Phe173Leu
ENST00000393562.10:c.517_519delinsCTT MANE Select ENSP00000377192.3:p.Phe173Leu
NM_000402.4:c.607_609delinsCTT NP_000393.4:p.Phe203Leu
NM_001042351.2:c.517_519delinsCTT NP_001035810.1:p.Phe173Leu
NM_001042351.3:c.517_519delinsCTT NP_001035810.1:p.Phe173Leu
ENST00000369620.6:c.517_519delinsCTT ENSP00000358633.2:p.Phe173Leu
ENST00000393562.6:c.607_609delinsCTT ENSP00000377192.2:p.Phe203Leu
ENST00000393564.6:c.517_519delinsCTT ENSP00000377194.2:p.Phe173Leu
ENST00000393564.7:c.517_519delinsCTT ENSP00000377194.2:p.Phe173Leu
ENST00000433845.1:c.517_519delinsCTT ENSP00000394690.1:p.Phe173Leu
ENST00000439227.5:c.520_522delinsCTT ENSP00000395599.1:p.Phe174Leu
ENST00000439227.6:c.520_522delinsCTT ENSP00000395599.2:p.Phe174Leu
ENST00000440967.5:c.520_522delinsCTT ENSP00000400648.1:p.Phe174Leu
ENST00000621232.4:c.517_519delinsCTT ENSP00000483686.1:p.Phe173Leu
ENST00000696420.1:c.517_519delinsCTT ENSP00000512615.1:p.Phe173Leu
ENST00000696421.1:c.517_519delinsCTT ENSP00000512616.1:p.Phe173Leu
ENST00000696422.1:c.380_382delinsCTT
ENST00000696423.1:c.383_385delinsCTT
ENST00000696424.1:c.397_399delinsCTT ENSP00000512619.1:p.Phe133Leu
ENST00000696425.1:c.517_519delinsCTT ENSP00000512620.1:p.Phe173Leu
ENST00000696426.1:c.517_519delinsCTT ENSP00000512621.1:p.Phe173Leu
ENST00000696427.1:c.517_519delinsCTT ENSP00000512622.1:p.Phe173Leu
ENST00000696428.1:c.*359_*361delinsCTT ENSP00000512623.1:n.*359_*361delinsCTT
ENST00000696429.1:c.517_519delinsCTT ENSP00000512624.1:p.Phe173Leu
ENST00000696430.1:c.517_519delinsCTT ENSP00000512625.1:p.Phe173Leu
XM_005274657.2:c.610_612delinsCTT XP_005274714.1:p.Phe204Leu
XM_005274658.2:c.520_522delinsCTT XP_005274715.1:p.Phe174Leu
XM_011531132.1:c.610_612delinsCTT XP_011529434.1:p.Phe204Leu