Canonical Allele Identifier: CA2824282233
Community Standard Title: NM_001360016.2(G6PD):c.865-174_865-172del
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533300_154533302del , CM000685.2:g.154533300_154533302del GRCh38
NC_000023.10:g.153761515_153761517del , CM000685.1:g.153761515_153761517del GRCh37
NC_000023.9:g.153414709_153414711del NCBI36
NG_009015.2:g.19271_19273del

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.865-174_865-172del MANE Select NP_001346945.1:n.865-174_865-172del
ENST00000393562.10:c.865-174_865-172del MANE Select ENSP00000377192.3:n.865-174_865-172del
NM_000402.4:c.955-174_955-172del NP_000393.4:n.955-174_955-172del
NM_001042351.2:c.865-174_865-172del NP_001035810.1:n.865-174_865-172del
NM_001042351.3:c.865-174_865-172del NP_001035810.1:n.865-174_865-172del
ENST00000369620.6:c.1003-174_1003-172del ENSP00000358633.2:n.1003-174_1003-172del
ENST00000393562.6:c.955-174_955-172del ENSP00000377192.2:n.955-174_955-172del
ENST00000393564.6:c.865-174_865-172del ENSP00000377194.2:n.865-174_865-172del
ENST00000393564.7:c.865-174_865-172del ENSP00000377194.2:n.865-174_865-172del
ENST00000439227.5:c.868-174_868-172del ENSP00000395599.1:n.868-174_868-172del
ENST00000439227.6:c.868-174_868-172del ENSP00000395599.2:n.868-174_868-172del
ENST00000440967.5:c.868-174_868-172del ENSP00000400648.1:n.868-174_868-172del
ENST00000621232.4:c.865-174_865-172del ENSP00000483686.1:n.865-174_865-172del
ENST00000696420.1:c.865-174_865-172del ENSP00000512615.1:n.865-174_865-172del
ENST00000696421.1:c.865-174_865-172del ENSP00000512616.1:n.865-174_865-172del
ENST00000696422.1:c.728-174_728-172del
ENST00000696423.1:c.731-174_731-172del
ENST00000696424.1:c.717-174_717-172del ENSP00000512619.1:n.717-174_717-172del
ENST00000696425.1:c.864+274_864+276del ENSP00000512620.1:n.864+274_864+276del
ENST00000696426.1:c.*151_*153del ENSP00000512621.1:n.*151_*153del
ENST00000696427.1:c.872-174_872-172del ENSP00000512622.1:n.872-174_872-172del
ENST00000696428.1:c.*707-174_*707-172del ENSP00000512623.1:n.*707-174_*707-172del
ENST00000696429.1:c.865-174_865-172del ENSP00000512624.1:n.865-174_865-172del
ENST00000696430.1:c.865-174_865-172del ENSP00000512625.1:n.865-174_865-172del
XM_005274657.2:c.958-174_958-172del XP_005274714.1:n.958-174_958-172del
XM_005274658.2:c.868-174_868-172del XP_005274715.1:n.868-174_868-172del
XM_011531132.1:c.957+274_957+276del XP_011529434.1:n.957+274_957+276del