Canonical Allele Identifier: CA2569737699

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916414_143916417del , CM000670.2:g.143916414_143916417del	GRCh38
NC_000008.10:g.144990582_144990585del , CM000670.1:g.144990582_144990585del	GRCh37
NC_000008.9:g.145062570_145062573del	NCBI36
NG_012492.1:g.65329_65332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13536_13539del	ENSP00000437303.2:p.Gln4513ProfsTer?
ENST00000685198.1:c.13455_13458del	ENSP00000510528.1:p.Gln4486ProfsTer?
ENST00000687971.1:c.13122_13125del	ENSP00000510788.1:p.Gln4375ProfsTer?
ENST00000693060.1:c.13335_13338del	ENSP00000510329.1:p.Gln4446ProfsTer?
ENST00000345136.8:c.13404_13407del MANE Select	ENSP00000344848.3:p.Gln4469ProfsTer?
ENST00000527303.2:c.10104_10107del	ENSP00000433982.2:p.Gln3369ProfsTer?
ENST00000322810.8:c.13815_13818del	ENSP00000323856.4:p.Gln4606ProfsTer?
ENST00000345136.7:c.13404_13407del	ENSP00000344848.3:p.Gln4469ProfsTer?
ENST00000354589.7:c.13404_13407del	ENSP00000346602.3:p.Gln4469ProfsTer?
ENST00000354958.6:c.13338_13341del	ENSP00000347044.2:p.Gln4447ProfsTer?
ENST00000356346.7:c.13362_13365del MANE Plus Clinical	ENSP00000348702.3:p.Gln4455ProfsTer?
ENST00000357649.6:c.13416_13419del	ENSP00000350277.2:p.Gln4473ProfsTer?
ENST00000398774.6:c.13308_13311del	ENSP00000381756.2:p.Gln4437ProfsTer?
ENST00000436759.6:c.13485_13488del	ENSP00000388180.2:p.Gln4496ProfsTer?
ENST00000527096.5:c.13473_13476del	ENSP00000434583.1:p.Gln4492ProfsTer?
NM_000445.4:c.13485_13488del	NP_000436.2:p.Gln4496ProfsTer?
NM_201378.3:c.13362_13365del	NP_958780.1:p.Gln4455ProfsTer?
NM_201379.2:c.13338_13341del	NP_958781.1:p.Gln4447ProfsTer?
NM_201380.3:c.13815_13818del	NP_958782.1:p.Gln4606ProfsTer?
NM_201381.2:c.13308_13311del	NP_958783.1:p.Gln4437ProfsTer?
NM_201382.3:c.13404_13407del	NP_958784.1:p.Gln4469ProfsTer?
NM_201383.2:c.13416_13419del	NP_958785.1:p.Gln4473ProfsTer?
NM_201384.2:c.13404_13407del	NP_958786.1:p.Gln4469ProfsTer?
XM_005250976.2:c.13830_13833del	XP_005251033.1:p.Gln4611ProfsTer?
XM_005250978.2:c.13431_13434del	XP_005251035.1:p.Gln4478ProfsTer?
XM_005250979.3:c.13419_13422del	XP_005251036.1:p.Gln4474ProfsTer?
XM_005250980.3:c.13419_13422del	XP_005251037.1:p.Gln4474ProfsTer?
XM_005250981.2:c.13377_13380del	XP_005251038.1:p.Gln4460ProfsTer?
XM_005250982.2:c.13353_13356del	XP_005251039.1:p.Gln4452ProfsTer?
XM_005250983.2:c.13335_13338del	XP_005251040.1:p.Gln4446ProfsTer?
XM_005250984.3:c.13323_13326del	XP_005251041.1:p.Gln4442ProfsTer?
XM_006716588.2:c.13500_13503del	XP_006716651.1:p.Gln4501ProfsTer?
XM_006716589.2:c.13350_13353del	XP_006716652.1:p.Gln4451ProfsTer?
XM_006716590.2:c.13350_13353del	XP_006716653.1:p.Gln4451ProfsTer?
XM_011517130.1:c.13419_13422del	XP_011515432.1:p.Gln4474ProfsTer?
XM_011517131.1:c.13335_13338del	XP_011515433.1:p.Gln4446ProfsTer?
XM_011517132.1:c.10050_10053del	XP_011515434.1:p.Gln3351ProfsTer?
XM_005250976.4:c.13830_13833del	XP_005251033.1:p.Gln4611ProfsTer?
XM_005250978.3:c.13431_13434del	XP_005251035.1:p.Gln4478ProfsTer?
XM_005250979.4:c.13419_13422del	XP_005251036.1:p.Gln4474ProfsTer?
XM_005250980.4:c.13419_13422del	XP_005251037.1:p.Gln4474ProfsTer?
XM_005250981.3:c.13377_13380del	XP_005251038.1:p.Gln4460ProfsTer?
XM_005250982.4:c.13353_13356del	XP_005251039.1:p.Gln4452ProfsTer?
XM_005250984.5:c.13323_13326del	XP_005251041.1:p.Gln4442ProfsTer?
XM_006716588.3:c.13500_13503del	XP_006716651.1:p.Gln4501ProfsTer?
XM_006716590.3:c.13350_13353del	XP_006716653.1:p.Gln4451ProfsTer?
XM_011517130.2:c.13419_13422del	XP_011515432.1:p.Gln4474ProfsTer?
XM_011517131.2:c.13335_13338del	XP_011515433.1:p.Gln4446ProfsTer?
XM_011517132.2:c.10050_10053del	XP_011515434.1:p.Gln3351ProfsTer?
NM_000445.5:c.13485_13488del	NP_000436.2:p.Gln4496ProfsTer?
NM_201378.4:c.13362_13365del MANE Plus Clinical	NP_958780.1:p.Gln4455ProfsTer?
NM_201379.3:c.13338_13341del	NP_958781.1:p.Gln4447ProfsTer?
NM_201380.4:c.13815_13818del	NP_958782.1:p.Gln4606ProfsTer?
NM_201381.3:c.13308_13311del	NP_958783.1:p.Gln4437ProfsTer?
NM_201382.4:c.13404_13407del	NP_958784.1:p.Gln4469ProfsTer?
NM_201383.3:c.13416_13419del	NP_958785.1:p.Gln4473ProfsTer?
NM_201384.3:c.13404_13407del MANE Select	NP_958786.1:p.Gln4469ProfsTer?