Canonical Allele Identifier: CA2573052973

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133096302_133096303delinsCA , CM000670.2:g.133096302_133096303delinsCA GRCh38
NC_000008.10:g.134108546_134108547delinsCA , CM000670.1:g.134108546_134108547delinsCA GRCh37
NC_000008.9:g.134177728_134177729delinsCA NCBI36
NG_015832.1:g.234342_234343delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_001045556.3:c.-319+6250_-319+6251delinsTG (SLA) MANE Select NP_001039021.1:n.-319+6250_-319+6251delinsTG
NM_003235.5:c.7501_7502delinsCA (TG) MANE Select NP_003226.4:p.Trp2501Gln
ENST00000220616.9:c.7501_7502delinsCA (TG) MANE Select ENSP00000220616.4:p.Trp2501Gln
ENST00000338087.10:c.-319+6250_-319+6251delinsTG (SLA) MANE Select ENSP00000337548.5:n.-319+6250_-319+6251delinsTG
NM_001045556.2:c.-319+6250_-319+6251delinsTG (SLA) NP_001039021.1:n.-319+6250_-319+6251delinsTG
NM_001045557.2:c.11+6250_11+6251delinsTG (SLA) NP_001039022.2:n.11+6250_11+6251delinsTG
NM_001045557.3:c.11+6250_11+6251delinsTG (SLA) NP_001039022.2:n.11+6250_11+6251delinsTG
NM_001282964.1:c.11+6250_11+6251delinsTG (SLA) NP_001269893.1:n.11+6250_11+6251delinsTG
NM_001282964.2:c.11+6250_11+6251delinsTG (SLA) NP_001269893.1:n.11+6250_11+6251delinsTG
NM_001282965.1:c.-264+6250_-264+6251delinsTG (SLA) NP_001269894.1:n.-264+6250_-264+6251delinsTG
NM_001282965.2:c.-264+6250_-264+6251delinsTG (SLA) NP_001269894.1:n.-264+6250_-264+6251delinsTG
NM_003235.4:c.7501_7502delinsCA (TG) NP_003226.4:p.Trp2501Gln
ENST00000220616.8:c.7501_7502delinsCA (TG) ENSP00000220616.4:p.Trp2501Gln
ENST00000338087.9:c.-319+6250_-319+6251delinsTG (SLA) ENSP00000337548.5:n.-319+6250_-319+6251delinsTG
ENST00000395352.7:c.11+6250_11+6251delinsTG (SLA) ENSP00000378759.3:n.11+6250_11+6251delinsTG
ENST00000517648.5:c.11+6250_11+6251delinsTG (SLA) ENSP00000428559.1:n.11+6250_11+6251delinsTG
ENST00000517932.1:n.61-6188_61-6187delinsTG (SLA)
ENST00000518565.5:n.324+6250_324+6251delinsTG (SLA)
ENST00000519178.5:c.2867_2868delinsCA (TG)
ENST00000519341.5:c.-442+6250_-442+6251delinsTG (SLA) ENSP00000429681.1:n.-442+6250_-442+6251delinsTG
ENST00000519543.5:c.1900_1901delinsCA (TG) ENSP00000430430.1:p.Trp634Gln
ENST00000519558.5:c.-468+6250_-468+6251delinsTG (SLA) ENSP00000429143.1:n.-468+6250_-468+6251delinsTG
ENST00000519747.5:c.-419+6250_-419+6251delinsTG (SLA) ENSP00000428971.1:n.-419+6250_-419+6251delinsTG
ENST00000521302.5:c.-388+6250_-388+6251delinsTG (SLA) ENSP00000430184.1:n.-388+6250_-388+6251delinsTG
ENST00000521823.5:n.76+6250_76+6251delinsTG (SLA)
ENST00000522119.5:c.-41+6097_-41+6098delinsTG (SLA) ENSP00000430596.1:n.-41+6097_-41+6098delinsTG
ENST00000522809.1:n.147_148delinsCA (TG)
ENST00000522946.5:n.143+6097_143+6098delinsTG (SLA)
ENST00000522996.5:n.683_684delinsCA (TG)
ENST00000523610.5:c.-319+6097_-319+6098delinsTG (SLA) ENSP00000428087.1:n.-319+6097_-319+6098delinsTG
ENST00000523756.5:c.4156_4157delinsCA (TG)
ENST00000524345.5:c.-264+6250_-264+6251delinsTG (SLA) ENSP00000427928.1:n.-264+6250_-264+6251delinsTG
XM_005251038.3:c.7309_7310delinsCA (TG) XP_005251095.1:p.Trp2437Gln
XM_005251038.4:c.7309_7310delinsCA (TG) XP_005251095.1:p.Trp2437Gln
XM_006716622.2:c.7438_7439delinsCA (TG) XP_006716685.1:p.Trp2480Gln
XM_006716622.3:c.7438_7439delinsCA (TG) XP_006716685.1:p.Trp2480Gln
XM_017013739.2:c.-542+6250_-542+6251delinsTG (SLA) XP_016869228.1:n.-542+6250_-542+6251delinsTG
XM_017013793.1:c.7435_7436delinsCA (TG) XP_016869282.1:p.Trp2479Gln
XM_017013794.1:c.7501_7502delinsCA (TG) XP_016869283.1:p.Trp2501Gln
XM_017013795.1:c.7330_7331delinsCA (TG) XP_016869284.1:p.Trp2444Gln
XM_017013796.1:c.7282_7283delinsCA (TG) XP_016869285.1:p.Trp2428Gln
XM_017013797.1:c.7240_7241delinsCA (TG) XP_016869286.1:p.Trp2414Gln