Canonical Allele Identifier: CA3275511356
Community Standard Title: NM_001360016.2(G6PD):c.1081_1082delinsAT (p.Ala361Ile)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532772_154532773delinsAT , CM000685.2:g.154532772_154532773delinsAT GRCh38
NC_000023.10:g.153760987_153760988delinsAT , CM000685.1:g.153760987_153760988delinsAT GRCh37
NC_000023.9:g.153414181_153414182delinsAT NCBI36
NG_009015.2:g.19800_19801delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1081_1082delinsAT MANE Select NP_001346945.1:p.Ala361Ile
ENST00000393562.10:c.1081_1082delinsAT MANE Select ENSP00000377192.3:p.Ala361Ile
NM_000402.4:c.1171_1172delinsAT NP_000393.4:p.Ala391Ile
NM_001042351.2:c.1081_1082delinsAT NP_001035810.1:p.Ala361Ile
NM_001042351.3:c.1081_1082delinsAT NP_001035810.1:p.Ala361Ile
ENST00000369620.6:c.1219_1220delinsAT ENSP00000358633.2:p.Ala407Ile
ENST00000393562.6:c.1171_1172delinsAT ENSP00000377192.2:p.Ala391Ile
ENST00000393564.6:c.1081_1082delinsAT ENSP00000377194.2:p.Ala361Ile
ENST00000393564.7:c.1081_1082delinsAT ENSP00000377194.2:p.Ala361Ile
ENST00000439227.6:c.1084_1085delinsAT ENSP00000395599.2:p.Ala362Ile
ENST00000490651.1:n.302_303delinsAT
ENST00000621232.4:c.1081_1082delinsAT ENSP00000483686.1:p.Ala361Ile
ENST00000696420.1:c.1081_1082delinsAT ENSP00000512615.1:p.Ala361Ile
ENST00000696421.1:c.1081_1082delinsAT ENSP00000512616.1:p.Ala361Ile
ENST00000696422.1:c.944_945delinsAT
ENST00000696423.1:c.947_948delinsAT
ENST00000696424.1:c.933_934delinsAT ENSP00000512619.1:n.933_934delinsAT
ENST00000696425.1:c.894_895delinsAT ENSP00000512620.1:p.Pro299Ser
ENST00000696426.1:c.*541_*542delinsAT ENSP00000512621.1:n.*541_*542delinsAT
ENST00000696427.1:c.*41_*42delinsAT ENSP00000512622.1:n.*41_*42delinsAT
ENST00000696428.1:c.*923_*924delinsAT ENSP00000512623.1:n.*923_*924delinsAT
ENST00000696429.1:c.1081_1082delinsAT ENSP00000512624.1:p.Ala361Ile
ENST00000696430.1:c.1081_1082delinsAT ENSP00000512625.1:p.Ala361Ile
XM_005274657.2:c.1174_1175delinsAT XP_005274714.1:p.Ala392Ile
XM_005274658.2:c.1084_1085delinsAT XP_005274715.1:p.Ala362Ile
XM_011531132.1:c.987_988delinsAT XP_011529434.1:p.Pro330Ser