Canonical Allele Identifier: CA2250000970
Gene: PIGL HGNC NCBI

Linked Data

dbSNP Id: rs2093085688

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317978_16317979insTGTCTCCTCAAAGC , CM000679.2:g.16317978_16317979insTGTCTCCTCAAAGC GRCh38
NC_000017.10:g.16221292_16221293insTGTCTCCTCAAAGC , CM000679.1:g.16221292_16221293insTGTCTCCTCAAAGC GRCh37
NC_000017.9:g.16162017_16162018insTGTCTCCTCAAAGC NCBI36
NG_032651.1:g.105784_105785insTGTCTCCTCAAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+70_660+71insTGTCTCCTCAAAGC MANE Select ENSP00000225609.5:n.660+70_660+71insTGTCTCCTCAAAGC
ENST00000225609.9:c.660+70_660+71insTGTCTCCTCAAAGC ENSP00000225609.5:n.660+70_660+71insTGTCTCCTCAAAGC
ENST00000395844.8:c.628+70_628+71insTGTCTCCTCAAAGC ENSP00000379185.3:n.628+70_628+71insTGTCTCCTCAAAGC
ENST00000477745.5:n.658+70_658+71insTGTCTCCTCAAAGC
ENST00000488375.2:n.518+70_518+71insTGTCTCCTCAAAGC
ENST00000581006.5:c.426+18000_426+18001insTGTCTCCTCAAAGC ENSP00000462432.1:n.426+18000_426+18001insTGTCTCCTCAAAGC
ENST00000596678.2:c.202+70_202+71insTGTCTCCTCAAAGC ENSP00000470064.2:n.202+70_202+71insTGTCTCCTCAAAGC
ENST00000613719.1:n.987+290_987+291insTGTCTCCTCAAAGC
NM_004278.3:c.660+70_660+71insTGTCTCCTCAAAGC NP_004269.1:n.660+70_660+71insTGTCTCCTCAAAGC
XR_243571.2:n.1658+70_1658+71insTGTCTCCTCAAAGC
XM_017025349.1:c.*824+70_*824+71insTGTCTCCTCAAAGC XP_016880838.1:n.*824+70_*824+71insTGTCTCCTCAAAGC
XM_017025350.1:c.*824+70_*824+71insTGTCTCCTCAAAGC XP_016880839.1:n.*824+70_*824+71insTGTCTCCTCAAAGC
XM_017025352.1:c.660+70_660+71insTGTCTCCTCAAAGC XP_016880841.1:n.660+70_660+71insTGTCTCCTCAAAGC
XM_017025353.1:c.660+70_660+71insTGTCTCCTCAAAGC XP_016880842.1:n.660+70_660+71insTGTCTCCTCAAAGC
XM_017025354.1:c.628+70_628+71insTGTCTCCTCAAAGC XP_016880843.1:n.628+70_628+71insTGTCTCCTCAAAGC
XM_017025355.1:c.628+70_628+71insTGTCTCCTCAAAGC XP_016880844.1:n.628+70_628+71insTGTCTCCTCAAAGC
XM_017025356.1:c.*1137+70_*1137+71insTGTCTCCTCAAAGC XP_016880845.1:n.*1137+70_*1137+71insTGTCTCCTCAAAGC
NM_004278.4:c.660+70_660+71insTGTCTCCTCAAAGC MANE Select NP_004269.1:n.660+70_660+71insTGTCTCCTCAAAGC