Canonical Allele Identifier: CA2689011281

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916360-A-AGAGCCGGTGCGCGAGCCGGTGCGGGAGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916361_143916362insAGCCGGTGCGCGAGCCGGTGCGGGAGCCGG , CM000670.2:g.143916361_143916362insAGCCGGTGCGCGAGCCGGTGCGGGAGCCGG	GRCh38
NC_000008.10:g.144990529_144990530insAGCCGGTGCGCGAGCCGGTGCGGGAGCCGG , CM000670.1:g.144990529_144990530insAGCCGGTGCGCGAGCCGGTGCGGGAGCCGG	GRCh37
NC_000008.9:g.145062517_145062518insAGCCGGTGCGCGAGCCGGTGCGGGAGCCGG	NCBI36
NG_012492.1:g.65385_65386insCGGCTCCCGCACCGGCTCGCGCACCGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13592_13593insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000437303.2:p.Ala4531_Gly4532insGlySerArgThrGlySerArgTh...
ENST00000685198.1:c.13511_13512insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000510528.1:p.Ala4504_Gly4505insGlySerArgThrGlySerArgTh...
ENST00000687971.1:c.13178_13179insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000510788.1:p.Ala4393_Gly4394insGlySerArgThrGlySerArgTh...
ENST00000693060.1:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000510329.1:p.Ala4464_Gly4465insGlySerArgThrGlySerArgTh...
ENST00000345136.8:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC MANE Select	ENSP00000344848.3:p.Ala4487_Gly4488insGlySerArgThrGlySerArgTh...
ENST00000527303.2:c.10160_10161insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000433982.2:p.Ala3387_Gly3388insGlySerArgThrGlySerArgTh...
ENST00000322810.8:c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000323856.4:p.Ala4624_Gly4625insGlySerArgThrGlySerArgTh...
ENST00000345136.7:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000344848.3:p.Ala4487_Gly4488insGlySerArgThrGlySerArgTh...
ENST00000354589.7:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000346602.3:p.Ala4487_Gly4488insGlySerArgThrGlySerArgTh...
ENST00000354958.6:c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000347044.2:p.Ala4465_Gly4466insGlySerArgThrGlySerArgTh...
ENST00000356346.7:c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGCTC MANE Plus Clinical	ENSP00000348702.3:p.Ala4473_Gly4474insGlySerArgThrGlySerArgTh...
ENST00000357649.6:c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000350277.2:p.Ala4491_Gly4492insGlySerArgThrGlySerArgTh...
ENST00000398774.6:c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000381756.2:p.Ala4455_Gly4456insGlySerArgThrGlySerArgTh...
ENST00000436759.6:c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000388180.2:p.Ala4514_Gly4515insGlySerArgThrGlySerArgTh...
ENST00000527096.5:c.13529_13530insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	ENSP00000434583.1:p.Ala4510_Gly4511insGlySerArgThrGlySerArgTh...
NM_000445.4:c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_000436.2:p.Ala4514_Gly4515insGlySerArgThrGlySerArgThrGlySe...
NM_201378.3:c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958780.1:p.Ala4473_Gly4474insGlySerArgThrGlySerArgThrGlySe...
NM_201379.2:c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958781.1:p.Ala4465_Gly4466insGlySerArgThrGlySerArgThrGlySe...
NM_201380.3:c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958782.1:p.Ala4624_Gly4625insGlySerArgThrGlySerArgThrGlySe...
NM_201381.2:c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958783.1:p.Ala4455_Gly4456insGlySerArgThrGlySerArgThrGlySe...
NM_201382.3:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958784.1:p.Ala4487_Gly4488insGlySerArgThrGlySerArgThrGlySe...
NM_201383.2:c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958785.1:p.Ala4491_Gly4492insGlySerArgThrGlySerArgThrGlySe...
NM_201384.2:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958786.1:p.Ala4487_Gly4488insGlySerArgThrGlySerArgThrGlySe...
XM_005250976.2:c.13886_13887insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251033.1:p.Ala4629_Gly4630insGlySerArgThrGlySerArgThrGl...
XM_005250978.2:c.13487_13488insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251035.1:p.Ala4496_Gly4497insGlySerArgThrGlySerArgThrGl...
XM_005250979.3:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251036.1:p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGl...
XM_005250980.3:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251037.1:p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGl...
XM_005250981.2:c.13433_13434insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251038.1:p.Ala4478_Gly4479insGlySerArgThrGlySerArgThrGl...
XM_005250982.2:c.13409_13410insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251039.1:p.Ala4470_Gly4471insGlySerArgThrGlySerArgThrGl...
XM_005250983.2:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251040.1:p.Ala4464_Gly4465insGlySerArgThrGlySerArgThrGl...
XM_005250984.3:c.13379_13380insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251041.1:p.Ala4460_Gly4461insGlySerArgThrGlySerArgThrGl...
XM_006716588.2:c.13556_13557insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_006716651.1:p.Ala4519_Gly4520insGlySerArgThrGlySerArgThrGl...
XM_006716589.2:c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_006716652.1:p.Ala4469_Gly4470insGlySerArgThrGlySerArgThrGl...
XM_006716590.2:c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_006716653.1:p.Ala4469_Gly4470insGlySerArgThrGlySerArgThrGl...
XM_011517130.1:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_011515432.1:p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGl...
XM_011517131.1:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_011515433.1:p.Ala4464_Gly4465insGlySerArgThrGlySerArgThrGl...
XM_011517132.1:c.10106_10107insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_011515434.1:p.Ala3369_Gly3370insGlySerArgThrGlySerArgThrGl...
XM_005250976.4:c.13886_13887insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251033.1:p.Ala4629_Gly4630insGlySerArgThrGlySerArgThrGl...
XM_005250978.3:c.13487_13488insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251035.1:p.Ala4496_Gly4497insGlySerArgThrGlySerArgThrGl...
XM_005250979.4:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251036.1:p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGl...
XM_005250980.4:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251037.1:p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGl...
XM_005250981.3:c.13433_13434insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251038.1:p.Ala4478_Gly4479insGlySerArgThrGlySerArgThrGl...
XM_005250982.4:c.13409_13410insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251039.1:p.Ala4470_Gly4471insGlySerArgThrGlySerArgThrGl...
XM_005250984.5:c.13379_13380insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_005251041.1:p.Ala4460_Gly4461insGlySerArgThrGlySerArgThrGl...
XM_006716588.3:c.13556_13557insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_006716651.1:p.Ala4519_Gly4520insGlySerArgThrGlySerArgThrGl...
XM_006716590.3:c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_006716653.1:p.Ala4469_Gly4470insGlySerArgThrGlySerArgThrGl...
XM_011517130.2:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_011515432.1:p.Ala4492_Gly4493insGlySerArgThrGlySerArgThrGl...
XM_011517131.2:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_011515433.1:p.Ala4464_Gly4465insGlySerArgThrGlySerArgThrGl...
XM_011517132.2:c.10106_10107insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	XP_011515434.1:p.Ala3369_Gly3370insGlySerArgThrGlySerArgThrGl...
NM_000445.5:c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_000436.2:p.Ala4514_Gly4515insGlySerArgThrGlySerArgThrGlySe...
NM_201378.4:c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGCTC MANE Plus Clinical	NP_958780.1:p.Ala4473_Gly4474insGlySerArgThrGlySerArgThrGlySe...
NM_201379.3:c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958781.1:p.Ala4465_Gly4466insGlySerArgThrGlySerArgThrGlySe...
NM_201380.4:c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958782.1:p.Ala4624_Gly4625insGlySerArgThrGlySerArgThrGlySe...
NM_201381.3:c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958783.1:p.Ala4455_Gly4456insGlySerArgThrGlySerArgThrGlySe...
NM_201382.4:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958784.1:p.Ala4487_Gly4488insGlySerArgThrGlySerArgThrGlySe...
NM_201383.3:c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGCTC	NP_958785.1:p.Ala4491_Gly4492insGlySerArgThrGlySerArgThrGlySe...
NM_201384.3:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGCTC MANE Select	NP_958786.1:p.Ala4487_Gly4488insGlySerArgThrGlySerArgThrGlySe...