Canonical Allele Identifier: CA2750761576
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551874_85551875insGTTT , CM000664.2:g.85551874_85551875insGTTT GRCh38
NC_000002.11:g.85778997_85778998insGTTT , CM000664.1:g.85778997_85778998insGTTT GRCh37
NC_000002.10:g.85632508_85632509insGTTT NCBI36
NG_011811.2:g.14660_14661insAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6024_6025insAAAC
ENST00000482662.2:n.4431_4432insAAAC
ENST00000685865.1:n.2383_2384insAAAC
ENST00000687250.1:n.2083_2084insAAAC
ENST00000687995.1:n.1898_1899insAAAC
ENST00000688205.1:c.*1139_*1140insAAAC ENSP00000509673.1:n.*1139_*1140insAAAC
ENST00000688788.1:n.1785_1786insAAAC
ENST00000689276.1:c.1477_1478insAAAC ENSP00000510012.1:p.Leu493Ter
ENST00000689576.1:c.*165_*166insAAAC ENSP00000508712.1:n.*165_*166insAAAC
ENST00000690108.1:c.*1202_*1203insAAAC ENSP00000510617.1:n.*1202_*1203insAAAC
ENST00000690468.1:c.*98_*99insAAAC ENSP00000509078.1:n.*98_*99insAAAC
ENST00000690595.1:c.871_872insAAAC ENSP00000508979.1:p.Leu291Ter
ENST00000691348.1:c.*98_*99insAAAC ENSP00000509369.1:n.*98_*99insAAAC
ENST00000691410.1:c.*1123_*1124insAAAC ENSP00000508479.1:n.*1123_*1124insAAAC
ENST00000693287.1:c.862_863insAAAC ENSP00000510264.1:p.Leu288Ter
ENST00000693681.1:c.859_860insAAAC ENSP00000510789.1:p.Leu287Ter
ENST00000233838.9:c.1546_1547insAAAC MANE Select ENSP00000233838.3:p.Leu516Ter
ENST00000233838.8:c.1546_1547insAAAC ENSP00000233838.3:p.Leu516Ter
ENST00000430215.7:c.1375_1376insAAAC ENSP00000408045.3:p.Leu459Ter
ENST00000465637.5:n.179-3871_179-3870insAAAC
NM_000821.5:c.1546_1547insAAAC NP_000812.2:p.Leu516Ter
NM_000821.6:c.1546_1547insAAAC NP_000812.2:p.Leu516Ter
NM_001142269.2:c.1375_1376insAAAC NP_001135741.1:p.Leu459Ter
NM_001142269.3:c.1375_1376insAAAC NP_001135741.1:p.Leu459Ter
XM_005264259.3:c.1546_1547insAAAC XP_005264316.1:p.Leu516Ter
XM_011532764.1:c.724_725insAAAC XP_011531066.1:p.Leu242Ter
XM_011532765.1:c.724_725insAAAC XP_011531067.1:p.Leu242Ter
XR_939677.1:n.1459_1460insAAAC
XM_005264259.5:c.1546_1547insAAAC XP_005264316.1:p.Leu516Ter
XM_011532764.3:c.724_725insAAAC XP_011531066.1:p.Leu242Ter
XM_011532765.3:c.724_725insAAAC XP_011531067.1:p.Leu242Ter
XM_017003803.2:c.1375_1376insAAAC XP_016859292.1:p.Leu459Ter
XR_001738703.2:n.1459_1460insAAAC
NM_000821.7:c.1546_1547insAAAC MANE Select NP_000812.2:p.Leu516Ter
NM_001142269.4:c.1375_1376insAAAC NP_001135741.1:p.Leu459Ter