Linked Data
ClinVar Variation Id:
2678510
ClinVar RCV Id:
RCV003466320
dbSNP Id:
rs769706074
ExAC:
13:23910755 ATTCTC / A
gnomAD v2:
13-23910755-ATTCTC-A
gnomAD v4:
13-23336616-ATTCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336621_23336625del , CM000675.2:g.23336621_23336625del | GRCh38 |
| NC_000013.10:g.23910760_23910764del , CM000675.1:g.23910760_23910764del | GRCh37 |
| NC_000013.9:g.22808760_22808764del | NCBI36 |
| NG_012342.1:g.102082_102086del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17164_2185+17168del | ENSP00000508399.1:n.2185+17164_2185+17168del | |
| ENST00000682944.1:c.7282_7286del | ENSP00000507173.1:p.Glu2428PhefsTer10 | |
| ENST00000683210.1:c.2185+17164_2185+17168del | ENSP00000506739.1:n.2185+17164_2185+17168del | |
| ENST00000683270.1:c.6445+801_6445+805del | ENSP00000507624.1:n.6445+801_6445+805del | |
| ENST00000683367.1:c.2177-7137_2177-7133del | ENSP00000507780.1:n.2177-7137_2177-7133del | |
| ENST00000683489.1:c.2291+4964_2291+4968del | ENSP00000508403.1:n.2291+4964_2291+4968del | |
| ENST00000683680.1:c.2318+4964_2318+4968del | ENSP00000507223.1:n.2318+4964_2318+4968del | |
| ENST00000684163.1:c.2204-7137_2204-7133del | ENSP00000508262.1:n.2204-7137_2204-7133del | |
| ENST00000684196.1:n.4543-7137_4543-7133del | ||
| ENST00000684325.1:c.2186-14947_2186-14943del | ENSP00000508121.1:n.2186-14947_2186-14943del | |
| ENST00000684385.1:c.2221-7137_2221-7133del | ENSP00000507855.1:n.2221-7137_2221-7133del | |
| ENST00000684497.1:c.2186-13977_2186-13973del | ENSP00000507057.1:n.2186-13977_2186-13973del | |
| ENST00000382292.9:c.7255_7259del MANE Select | ENSP00000371729.3:p.Glu2419PhefsTer10 | |
| ENST00000423156.2:c.2186-7137_2186-7133del | ENSP00000390925.2:n.2186-7137_2186-7133del | |
| ENST00000455470.6:c.2431+4824_2431+4828del | ENSP00000406565.2:n.2431+4824_2431+4828del | |
| ENST00000382292.7:c.7255_7259del | ENSP00000371729.3:p.Glu2419PhefsTer10 | |
| ENST00000382298.7:c.7255_7259del | ENSP00000371735.3:p.Glu2419PhefsTer10 | |
| ENST00000402364.1:c.5005_5009del | ENSP00000385844.1:p.Glu1669PhefsTer10 | |
| ENST00000423156.1:c.1058-7137_1058-7133del | ENSP00000390925.1:n.1058-7137_1058-7133del | |
| ENST00000455470.5:c.2129+4824_2129+4828del | ||
| NM_001278055.1:c.6814_6818del | NP_001264984.1:p.Glu2272PhefsTer10 | |
| NM_014363.5:c.7255_7259del | NP_055178.3:p.Glu2419PhefsTer10 | |
| XM_005266338.1:c.7282_7286del | XP_005266395.1:p.Glu2428PhefsTer10 | |
| XM_011535038.1:c.7306_7310del | XP_011533340.1:p.Glu2436PhefsTer10 | |
| XM_011535039.1:c.7273_7277del | XP_011533341.1:p.Glu2425PhefsTer10 | |
| XM_005266338.2:c.7282_7286del | XP_005266395.1:p.Glu2428PhefsTer10 | |
| XM_011535039.2:c.7273_7277del | XP_011533341.1:p.Glu2425PhefsTer10 | |
| XM_017020539.1:c.7246_7250del | XP_016876028.1:p.Glu2416PhefsTer10 | |
| XM_024449337.1:c.7282_7286del | XP_024305105.1:p.Glu2428PhefsTer10 | |
| NM_014363.6:c.7255_7259del MANE Select | NP_055178.3:p.Glu2419PhefsTer10 | |
| NM_001278055.2:c.6814_6818del | NP_001264984.1:p.Glu2272PhefsTer10 |