Canonical Allele Identifier: CA4923778

Gene: PLEC

Linked Data

• dbSNP Id: rs781870788
• ExAC: 8:144990492 GGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA / G
• gnomAD v4: 8-143916324-GGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA-G
• MyVariant Identifiers: chr8:g.144990493_144990528del (hg19) ; chr8:g.143916325_143916360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916327_143916362del , CM000670.2:g.143916327_143916362del	GRCh38
NC_000008.10:g.144990495_144990530del , CM000670.1:g.144990495_144990530del	GRCh37
NC_000008.9:g.145062483_145062518del	NCBI36
NG_012492.1:g.65386_65421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13593_13628del	ENSP00000437303.2:p.Gly4532_Ala4543del
ENST00000685198.1:c.13512_13547del	ENSP00000510528.1:p.Gly4505_Ala4516del
ENST00000687971.1:c.13179_13214del	ENSP00000510788.1:p.Gly4394_Ala4405del
ENST00000693060.1:c.13392_13427del	ENSP00000510329.1:p.Gly4465_Ala4476del
ENST00000345136.8:c.13461_13496del MANE Select	ENSP00000344848.3:p.Gly4488_Ala4499del
ENST00000527303.2:c.10161_10196del	ENSP00000433982.2:p.Gly3388_Ala3399del
ENST00000322810.8:c.13872_13907del	ENSP00000323856.4:p.Gly4625_Ala4636del
ENST00000345136.7:c.13461_13496del	ENSP00000344848.3:p.Gly4488_Ala4499del
ENST00000354589.7:c.13461_13496del	ENSP00000346602.3:p.Gly4488_Ala4499del
ENST00000354958.6:c.13395_13430del	ENSP00000347044.2:p.Gly4466_Ala4477del
ENST00000356346.7:c.13419_13454del MANE Plus Clinical	ENSP00000348702.3:p.Gly4474_Ala4485del
ENST00000357649.6:c.13473_13508del	ENSP00000350277.2:p.Gly4492_Ala4503del
ENST00000398774.6:c.13365_13400del	ENSP00000381756.2:p.Gly4456_Ala4467del
ENST00000436759.6:c.13542_13577del	ENSP00000388180.2:p.Gly4515_Ala4526del
ENST00000527096.5:c.13530_13565del	ENSP00000434583.1:p.Gly4511_Ala4522del
NM_000445.4:c.13542_13577del	NP_000436.2:p.Gly4515_Ala4526del
NM_201378.3:c.13419_13454del	NP_958780.1:p.Gly4474_Ala4485del
NM_201379.2:c.13395_13430del	NP_958781.1:p.Gly4466_Ala4477del
NM_201380.3:c.13872_13907del	NP_958782.1:p.Gly4625_Ala4636del
NM_201381.2:c.13365_13400del	NP_958783.1:p.Gly4456_Ala4467del
NM_201382.3:c.13461_13496del	NP_958784.1:p.Gly4488_Ala4499del
NM_201383.2:c.13473_13508del	NP_958785.1:p.Gly4492_Ala4503del
NM_201384.2:c.13461_13496del	NP_958786.1:p.Gly4488_Ala4499del
XM_005250976.2:c.13887_13922del	XP_005251033.1:p.Gly4630_Ala4641del
XM_005250978.2:c.13488_13523del	XP_005251035.1:p.Gly4497_Ala4508del
XM_005250979.3:c.13476_13511del	XP_005251036.1:p.Gly4493_Ala4504del
XM_005250980.3:c.13476_13511del	XP_005251037.1:p.Gly4493_Ala4504del
XM_005250981.2:c.13434_13469del	XP_005251038.1:p.Gly4479_Ala4490del
XM_005250982.2:c.13410_13445del	XP_005251039.1:p.Gly4471_Ala4482del
XM_005250983.2:c.13392_13427del	XP_005251040.1:p.Gly4465_Ala4476del
XM_005250984.3:c.13380_13415del	XP_005251041.1:p.Gly4461_Ala4472del
XM_006716588.2:c.13557_13592del	XP_006716651.1:p.Gly4520_Ala4531del
XM_006716589.2:c.13407_13442del	XP_006716652.1:p.Gly4470_Ala4481del
XM_006716590.2:c.13407_13442del	XP_006716653.1:p.Gly4470_Ala4481del
XM_011517130.1:c.13476_13511del	XP_011515432.1:p.Gly4493_Ala4504del
XM_011517131.1:c.13392_13427del	XP_011515433.1:p.Gly4465_Ala4476del
XM_011517132.1:c.10107_10142del	XP_011515434.1:p.Gly3370_Ala3381del
XM_005250976.4:c.13887_13922del	XP_005251033.1:p.Gly4630_Ala4641del
XM_005250978.3:c.13488_13523del	XP_005251035.1:p.Gly4497_Ala4508del
XM_005250979.4:c.13476_13511del	XP_005251036.1:p.Gly4493_Ala4504del
XM_005250980.4:c.13476_13511del	XP_005251037.1:p.Gly4493_Ala4504del
XM_005250981.3:c.13434_13469del	XP_005251038.1:p.Gly4479_Ala4490del
XM_005250982.4:c.13410_13445del	XP_005251039.1:p.Gly4471_Ala4482del
XM_005250984.5:c.13380_13415del	XP_005251041.1:p.Gly4461_Ala4472del
XM_006716588.3:c.13557_13592del	XP_006716651.1:p.Gly4520_Ala4531del
XM_006716590.3:c.13407_13442del	XP_006716653.1:p.Gly4470_Ala4481del
XM_011517130.2:c.13476_13511del	XP_011515432.1:p.Gly4493_Ala4504del
XM_011517131.2:c.13392_13427del	XP_011515433.1:p.Gly4465_Ala4476del
XM_011517132.2:c.10107_10142del	XP_011515434.1:p.Gly3370_Ala3381del
NM_000445.5:c.13542_13577del	NP_000436.2:p.Gly4515_Ala4526del
NM_201378.4:c.13419_13454del MANE Plus Clinical	NP_958780.1:p.Gly4474_Ala4485del
NM_201379.3:c.13395_13430del	NP_958781.1:p.Gly4466_Ala4477del
NM_201380.4:c.13872_13907del	NP_958782.1:p.Gly4625_Ala4636del
NM_201381.3:c.13365_13400del	NP_958783.1:p.Gly4456_Ala4467del
NM_201382.4:c.13461_13496del	NP_958784.1:p.Gly4488_Ala4499del
NM_201383.3:c.13473_13508del	NP_958785.1:p.Gly4492_Ala4503del
NM_201384.3:c.13461_13496del MANE Select	NP_958786.1:p.Gly4488_Ala4499del