Canonical Allele Identifier: CA2402343722
Community Standard Title: NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp)
Gene: LARGE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.33274594_33274617del , CM000684.2:g.33274594_33274617del GRCh38
NC_000022.10:g.33670580_33670603del , CM000684.1:g.33670580_33670603del GRCh37
NC_000022.9:g.32000580_32000603del NCBI36
NG_009929.2:g.650813_650836del

Transcript Alleles

HGVS Amino-acid Change
NM_133642.5:c.2082_2105del MANE Select NP_598397.1:p.Glu694_Tyr702delinsAsp
ENST00000397394.8:c.2082_2105del MANE Select ENSP00000380549.2:p.Glu694_Tyr702delinsAsp
NM_001362949.1:c.2082_2105del NP_001349878.1:p.Glu694_Tyr702delinsAsp
NM_001362949.2:c.2082_2105del NP_001349878.1:p.Glu694_Tyr702delinsAsp
NM_001362951.1:c.2082_2105del NP_001349880.1:p.Glu694_Tyr702delinsAsp
NM_001362951.2:c.2082_2105del NP_001349880.1:p.Glu694_Tyr702delinsAsp
NM_001362953.1:c.2082_2105del NP_001349882.1:p.Glu694_Tyr702delinsAsp
NM_001362953.2:c.2082_2105del NP_001349882.1:p.Glu694_Tyr702delinsAsp
NM_001378624.1:c.2082_2105del NP_001365553.1:p.Glu694_Tyr702delinsAsp
NM_001378625.1:c.2082_2105del NP_001365554.1:p.Glu694_Tyr702delinsAsp
NM_001378626.1:c.2082_2105del NP_001365555.1:p.Glu694_Tyr702delinsAsp
NM_001378627.1:c.1935_1958del NP_001365556.1:p.Glu645_Tyr653delinsAsp
NM_001378628.1:c.1935_1958del NP_001365557.1:p.Glu645_Tyr653delinsAsp
NM_001378629.1:c.1926_1949del NP_001365558.1:p.Glu642_Tyr650delinsAsp
NM_001378630.1:c.1479_1502del NP_001365559.1:p.Glu493_Tyr501delinsAsp
NM_001378631.1:c.1176_1199del NP_001365560.1:p.Glu392_Tyr400delinsAsp
NM_004737.4:c.2082_2105del NP_004728.1:p.Glu694_Tyr702delinsAsp
NM_004737.6:c.2082_2105del NP_004728.1:p.Glu694_Tyr702delinsAsp
NM_004737.7:c.2082_2105del NP_004728.1:p.Glu694_Tyr702delinsAsp
NM_133642.3:c.2082_2105del NP_598397.1:p.Glu694_Tyr702delinsAsp
NM_133642.4:c.2082_2105del NP_598397.1:p.Glu694_Tyr702delinsAsp
ENST00000354992.6:c.2082_2105del ENSP00000347088.2:p.Glu694_Tyr702delinsAsp
ENST00000354992.7:c.2082_2105del ENSP00000347088.2:p.Glu694_Tyr702delinsAsp
ENST00000397394.6:c.2082_2105del ENSP00000380549.2:p.Glu694_Tyr702delinsAsp
ENST00000402320.5:c.1926_1949del ENSP00000385223.1:p.Glu642_Tyr650delinsAsp
ENST00000402320.6:c.1926_1949del ENSP00000385223.1:p.Glu642_Tyr650delinsAsp
ENST00000413114.6:c.2082_2105del ENSP00000415546.2:p.Glu694_Tyr702delinsAsp
ENST00000608642.5:c.761+29613_761+29636del ENSP00000476866.1:n.761+29613_761+29636del
ENST00000608642.6:c.1730+29613_1730+29636del ENSP00000476866.2:n.1730+29613_1730+29636del
ENST00000609799.5:c.482+41469_482+41492del ENSP00000476415.1:n.482+41469_482+41492del
ENST00000609799.6:c.1451+41469_1451+41492del ENSP00000476415.2:n.1451+41469_1451+41492del
ENST00000610186.5:c.908+8586_908+8609del ENSP00000476364.1:n.908+8586_908+8609del
ENST00000610186.6:c.1877+8586_1877+8609del ENSP00000476364.2:n.1877+8586_1877+8609del
ENST00000674543.1:c.*1523_*1546del ENSP00000501590.1:n.*1523_*1546del
ENST00000674668.1:c.1956_1979del ENSP00000502103.1:p.Glu652_Tyr660delinsAsp
ENST00000674708.1:n.1740_1763del
ENST00000674780.1:c.1479_1502del ENSP00000502772.1:p.Glu493_Tyr501delinsAsp
ENST00000674789.1:c.1935_1958del ENSP00000501941.1:p.Glu645_Tyr653delinsAsp
ENST00000674816.1:n.1890_1913del
ENST00000674999.1:c.1878_1901del ENSP00000502711.1:p.Glu626_Tyr634delinsAsp
ENST00000675277.1:c.1878_1901del ENSP00000502702.1:p.Glu626_Tyr634delinsAsp
ENST00000675382.1:c.*520_*543del ENSP00000501800.1:n.*520_*543del
ENST00000675416.1:c.2082_2105del ENSP00000502826.1:p.Glu694_Tyr702delinsAsp
ENST00000676031.1:c.*664_*687del ENSP00000501663.1:n.*664_*687del
ENST00000676070.1:c.2082_2105del ENSP00000502152.1:p.Glu694_Tyr702delinsAsp
ENST00000676126.1:c.1803_1826del ENSP00000501966.1:p.Glu601_Tyr609delinsAsp
ENST00000676132.1:c.2082_2105del ENSP00000501854.1:p.Glu694_Tyr702delinsAsp
ENST00000676370.1:c.2082_2105del ENSP00000502238.1:p.Glu694_Tyr702delinsAsp
XM_005261831.2:c.2082_2105del XP_005261888.1:p.Glu694_Tyr702delinsAsp
XM_005261831.3:c.2082_2105del XP_005261888.1:p.Glu694_Tyr702delinsAsp
XM_005261832.2:c.2082_2105del XP_005261889.1:p.Glu694_Tyr702delinsAsp
XM_005261832.3:c.2082_2105del XP_005261889.1:p.Glu694_Tyr702delinsAsp
XM_011530510.1:c.2082_2105del XP_011528812.1:p.Glu694_Tyr702delinsAsp
XM_011530511.1:c.1803_1826del XP_011528813.1:p.Glu601_Tyr609delinsAsp
XM_011530512.1:c.1479_1502del XP_011528814.1:p.Glu493_Tyr501delinsAsp
XM_011530512.2:c.1479_1502del XP_011528814.1:p.Glu493_Tyr501delinsAsp
XM_011530513.1:c.984_1007del XP_011528815.1:p.Glu328_Tyr336delinsAsp
XM_011530513.2:c.984_1007del XP_011528815.1:p.Glu328_Tyr336delinsAsp
XM_024452302.1:c.1877+8586_1877+8609del XP_024308070.1:n.1877+8586_1877+8609del
XR_002958722.1:n.1924+8586_1924+8609del