Canonical Allele Identifier: CA2573142975

Gene: PLEC

Linked Data

• ClinVar Variation Id: 1439795
• ClinVar RCV Id: RCV001950254

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916359_143916360delinsTG , CM000670.2:g.143916359_143916360delinsTG	GRCh38
NC_000008.10:g.144990527_144990528delinsTG , CM000670.1:g.144990527_144990528delinsTG	GRCh37
NC_000008.9:g.145062515_145062516delinsTG	NCBI36
NG_012492.1:g.65386_65387delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13593_13594delinsCA	ENSP00000437303.2:p.Gly4532Ser
ENST00000685198.1:c.13512_13513delinsCA	ENSP00000510528.1:p.Gly4505Ser
ENST00000687971.1:c.13179_13180delinsCA	ENSP00000510788.1:p.Gly4394Ser
ENST00000693060.1:c.13392_13393delinsCA	ENSP00000510329.1:p.Gly4465Ser
ENST00000345136.8:c.13461_13462delinsCA MANE Select	ENSP00000344848.3:p.Gly4488Ser
ENST00000527303.2:c.10161_10162delinsCA	ENSP00000433982.2:p.Gly3388Ser
ENST00000322810.8:c.13872_13873delinsCA	ENSP00000323856.4:p.Gly4625Ser
ENST00000345136.7:c.13461_13462delinsCA	ENSP00000344848.3:p.Gly4488Ser
ENST00000354589.7:c.13461_13462delinsCA	ENSP00000346602.3:p.Gly4488Ser
ENST00000354958.6:c.13395_13396delinsCA	ENSP00000347044.2:p.Gly4466Ser
ENST00000356346.7:c.13419_13420delinsCA MANE Plus Clinical	ENSP00000348702.3:p.Gly4474Ser
ENST00000357649.6:c.13473_13474delinsCA	ENSP00000350277.2:p.Gly4492Ser
ENST00000398774.6:c.13365_13366delinsCA	ENSP00000381756.2:p.Gly4456Ser
ENST00000436759.6:c.13542_13543delinsCA	ENSP00000388180.2:p.Gly4515Ser
ENST00000527096.5:c.13530_13531delinsCA	ENSP00000434583.1:p.Gly4511Ser
NM_000445.4:c.13542_13543delinsCA	NP_000436.2:p.Gly4515Ser
NM_201378.3:c.13419_13420delinsCA	NP_958780.1:p.Gly4474Ser
NM_201379.2:c.13395_13396delinsCA	NP_958781.1:p.Gly4466Ser
NM_201380.3:c.13872_13873delinsCA	NP_958782.1:p.Gly4625Ser
NM_201381.2:c.13365_13366delinsCA	NP_958783.1:p.Gly4456Ser
NM_201382.3:c.13461_13462delinsCA	NP_958784.1:p.Gly4488Ser
NM_201383.2:c.13473_13474delinsCA	NP_958785.1:p.Gly4492Ser
NM_201384.2:c.13461_13462delinsCA	NP_958786.1:p.Gly4488Ser
XM_005250976.2:c.13887_13888delinsCA	XP_005251033.1:p.Gly4630Ser
XM_005250978.2:c.13488_13489delinsCA	XP_005251035.1:p.Gly4497Ser
XM_005250979.3:c.13476_13477delinsCA	XP_005251036.1:p.Gly4493Ser
XM_005250980.3:c.13476_13477delinsCA	XP_005251037.1:p.Gly4493Ser
XM_005250981.2:c.13434_13435delinsCA	XP_005251038.1:p.Gly4479Ser
XM_005250982.2:c.13410_13411delinsCA	XP_005251039.1:p.Gly4471Ser
XM_005250983.2:c.13392_13393delinsCA	XP_005251040.1:p.Gly4465Ser
XM_005250984.3:c.13380_13381delinsCA	XP_005251041.1:p.Gly4461Ser
XM_006716588.2:c.13557_13558delinsCA	XP_006716651.1:p.Gly4520Ser
XM_006716589.2:c.13407_13408delinsCA	XP_006716652.1:p.Gly4470Ser
XM_006716590.2:c.13407_13408delinsCA	XP_006716653.1:p.Gly4470Ser
XM_011517130.1:c.13476_13477delinsCA	XP_011515432.1:p.Gly4493Ser
XM_011517131.1:c.13392_13393delinsCA	XP_011515433.1:p.Gly4465Ser
XM_011517132.1:c.10107_10108delinsCA	XP_011515434.1:p.Gly3370Ser
XM_005250976.4:c.13887_13888delinsCA	XP_005251033.1:p.Gly4630Ser
XM_005250978.3:c.13488_13489delinsCA	XP_005251035.1:p.Gly4497Ser
XM_005250979.4:c.13476_13477delinsCA	XP_005251036.1:p.Gly4493Ser
XM_005250980.4:c.13476_13477delinsCA	XP_005251037.1:p.Gly4493Ser
XM_005250981.3:c.13434_13435delinsCA	XP_005251038.1:p.Gly4479Ser
XM_005250982.4:c.13410_13411delinsCA	XP_005251039.1:p.Gly4471Ser
XM_005250984.5:c.13380_13381delinsCA	XP_005251041.1:p.Gly4461Ser
XM_006716588.3:c.13557_13558delinsCA	XP_006716651.1:p.Gly4520Ser
XM_006716590.3:c.13407_13408delinsCA	XP_006716653.1:p.Gly4470Ser
XM_011517130.2:c.13476_13477delinsCA	XP_011515432.1:p.Gly4493Ser
XM_011517131.2:c.13392_13393delinsCA	XP_011515433.1:p.Gly4465Ser
XM_011517132.2:c.10107_10108delinsCA	XP_011515434.1:p.Gly3370Ser
NM_000445.5:c.13542_13543delinsCA	NP_000436.2:p.Gly4515Ser
NM_201378.4:c.13419_13420delinsCA MANE Plus Clinical	NP_958780.1:p.Gly4474Ser
NM_201379.3:c.13395_13396delinsCA	NP_958781.1:p.Gly4466Ser
NM_201380.4:c.13872_13873delinsCA	NP_958782.1:p.Gly4625Ser
NM_201381.3:c.13365_13366delinsCA	NP_958783.1:p.Gly4456Ser
NM_201382.4:c.13461_13462delinsCA	NP_958784.1:p.Gly4488Ser
NM_201383.3:c.13473_13474delinsCA	NP_958785.1:p.Gly4492Ser
NM_201384.3:c.13461_13462delinsCA MANE Select	NP_958786.1:p.Gly4488Ser