Linked Data
ClinVar Variation Id:
2164
ClinVar RCV Id:
RCV000002247
RCV000002248
RCV000082844
RCV000200720
RCV000414931
RCV000627021
RCV000627781
RCV000778317
RCV001196017
RCV001251667
RCV002307353
RCV002476911
RCV003332991
RCV003407255
dbSNP Id:
rs137854521
ExAC:
11:22242646 C / CA
gnomAD v2:
11-22242646-C-CA
gnomAD v3:
11-22221100-C-CA
gnomAD v4:
11-22221100-C-CA
COSMIC:
COSM6206540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22221107dup , CM000673.2:g.22221107dup | GRCh38 |
| NC_000011.9:g.22242653dup , CM000673.1:g.22242653dup | GRCh37 |
| NC_000011.8:g.22199229dup | NCBI36 |
| NG_015844.1:g.32932dup , LRG_868:g.32932dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682266.1:c.-260dup | ENSP00000507766.1:n.-260dup | |
| ENST00000682341.1:c.149dup | ENSP00000508251.1:p.Asn50LysfsTer15 | |
| ENST00000682530.1:c.*123dup | ENSP00000506805.1:n.*123dup | |
| ENST00000682684.1:n.570dup | ||
| ENST00000683197.1:c.149dup | ENSP00000507641.1:p.Asn50LysfsTer15 | |
| ENST00000683411.1:c.-260dup | ENSP00000508397.1:n.-260dup | |
| ENST00000683437.1:c.-260dup | ENSP00000508408.1:n.-260dup | |
| ENST00000683613.1:n.1185dup | ||
| ENST00000683834.1:n.391dup | ||
| ENST00000683897.1:n.435dup | ||
| ENST00000684365.1:n.560dup | ||
| ENST00000684663.1:c.146dup | ENSP00000508009.1:p.Asn49LysfsTer15 | |
| ENST00000324559.9:c.191dup MANE Select | ENSP00000315371.9:p.Asn64LysfsTer15 | |
| ENST00000648804.1:n.756dup | ||
| ENST00000324559.8:c.191dup | ENSP00000315371.8:p.Asn64LysfsTer15 | |
| NM_001142649.1:c.188dup | NP_001136121.1:p.Asn63LysfsTer15 | |
| NM_213599.2:c.191dup , LRG_868t1:c.191dup | NP_998764.1:p.Asn64LysfsTer15 | |
| XM_005252820.2:c.149dup | XP_005252877.2:p.Asn50LysfsTer15 | |
| XM_005252821.2:c.146dup | XP_005252878.2:p.Asn49LysfsTer15 | |
| XM_005252822.3:c.113dup | XP_005252879.1:p.Asn38LysfsTer15 | |
| XM_005252823.3:c.110dup | XP_005252880.1:p.Asn37LysfsTer15 | |
| XM_011519949.1:c.98dup | XP_011518251.1:p.Asn33LysfsTer15 | |
| XM_005252820.3:c.149dup | XP_005252877.2:p.Asn50LysfsTer15 | |
| XM_005252821.3:c.146dup | XP_005252878.2:p.Asn49LysfsTer15 | |
| XM_005252822.4:c.113dup | XP_005252879.1:p.Asn38LysfsTer15 | |
| XM_011519949.2:c.98dup | XP_011518251.1:p.Asn33LysfsTer15 | |
| NM_001142649.2:c.188dup | NP_001136121.1:p.Asn63LysfsTer15 | |
| NM_213599.3:c.191dup MANE Select | NP_998764.1:p.Asn64LysfsTer15 |