Canonical Allele Identifier: CA2557424383
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154531652_154531725del , CM000685.2:g.154531652_154531725del GRCh38
NC_000023.10:g.153759867_153759940del , CM000685.1:g.153759867_153759940del GRCh37
NC_000023.9:g.153413061_153413134del NCBI36
NG_009015.2:g.20854_20927del

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.*281_*354del ENSP00000377194.2:n.*281_*354del
ENST00000439227.6:c.*281_*354del ENSP00000395599.2:n.*281_*354del
ENST00000696420.1:c.1457+469_1457+542del ENSP00000512615.1:n.1457+469_1457+542del
ENST00000696421.1:c.1457+469_1457+542del ENSP00000512616.1:n.1457+469_1457+542del
ENST00000696422.1:c.1692_1765del
ENST00000696423.1:c.1695_1768del
ENST00000696424.1:c.1681_1754del ENSP00000512619.1:n.1681_1754del
ENST00000696425.1:c.*742_*815del ENSP00000512620.1:n.*742_*815del
ENST00000696426.1:c.*1289_*1362del ENSP00000512621.1:n.*1289_*1362del
ENST00000696427.1:c.*789_*862del ENSP00000512622.1:n.*789_*862del
ENST00000696428.1:c.*1671_*1744del ENSP00000512623.1:n.*1671_*1744del
ENST00000696429.1:c.*281_*354del ENSP00000512624.1:n.*281_*354del
ENST00000696430.1:c.*281_*354del ENSP00000512625.1:n.*281_*354del
ENST00000393562.10:c.*281_*354del MANE Select ENSP00000377192.3:n.*281_*354del
ENST00000393562.6:c.*281_*354del ENSP00000377192.2:n.*281_*354del
ENST00000621232.4:c.*281_*354del ENSP00000483686.1:n.*281_*354del
NM_000402.4:c.*281_*354del NP_000393.4:n.*281_*354del
NM_001042351.2:c.*281_*354del NP_001035810.1:n.*281_*354del
XM_005274657.2:c.*281_*354del XP_005274714.1:n.*281_*354del
XM_005274658.2:c.*281_*354del XP_005274715.1:n.*281_*354del
NM_001360016.2:c.*281_*354del MANE Select NP_001346945.1:n.*281_*354del
NM_001042351.3:c.*281_*354del NP_001035810.1:n.*281_*354del