Linked Data
ClinVar Variation Id:
2688197
ClinVar RCV Id:
RCV003489106
dbSNP Id:
rs5868527
gnomAD v2:
5-67548200-C-CA
gnomAD v3:
5-68252372-C-CA
gnomAD v4:
5-68252372-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68252384dup , CM000667.2:g.68252384dup | GRCh38 |
| NC_000005.9:g.67548212dup , CM000667.1:g.67548212dup | GRCh37 |
| NC_000005.8:g.67583968dup | NCBI36 |
| NG_012849.2:g.41629dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517412.2:n.935-21006dup | ||
| ENST00000517643.2:c.335-21006dup | ENSP00000513333.1:n.335-21006dup | |
| ENST00000521657.6:c.335-21006dup | ENSP00000429277.1:n.335-21006dup | |
| ENST00000697457.1:c.335-21006dup | ENSP00000513315.1:n.335-21006dup | |
| ENST00000697458.1:c.335-21006dup | ENSP00000513316.1:n.335-21006dup | |
| ENST00000697460.1:c.-191-21006dup | ENSP00000513318.1:n.-191-21006dup | |
| ENST00000697461.1:c.335-21006dup | ENSP00000513319.1:n.335-21006dup | |
| ENST00000697556.1:c.335-21555dup | ENSP00000513334.1:n.335-21555dup | |
| ENST00000521381.6:c.335-21006dup MANE Select | ENSP00000428056.1:n.335-21006dup | |
| ENST00000517412.1:n.574-21006dup | ||
| ENST00000520675.1:c.40+12447dup | ENSP00000428566.1:n.40+12447dup | |
| ENST00000521381.5:c.335-21006dup | ENSP00000428056.1:n.335-21006dup | |
| ENST00000521657.5:c.335-21006dup | ENSP00000429277.1:n.335-21006dup | |
| NM_181523.2:c.335-21006dup | NP_852664.1:n.335-21006dup | |
| XM_005248542.2:c.335-21006dup | XP_005248599.1:n.335-21006dup | |
| XM_011543493.1:c.7+126dup | XP_011541795.1:n.7+126dup | |
| XM_005248542.3:c.335-21006dup | XP_005248599.1:n.335-21006dup | |
| XM_011543493.3:c.7+126dup | XP_011541795.1:n.7+126dup | |
| XM_017009585.2:c.335-21006dup | XP_016865074.1:n.335-21006dup | |
| XM_017009586.1:c.61+12447dup | XP_016865075.1:n.61+12447dup | |
| NM_181523.3:c.335-21006dup MANE Select | NP_852664.1:n.335-21006dup |