Linked Data
dbSNP Id:
rs1179749722
gnomAD v2:
5-153178572-C-CCTGTCACTCTTCTTGGTA
gnomAD v3:
5-153799012-C-CCTGTCACTCTTCTTGGTA
gnomAD v4:
5-153799012-C-CCTGTCACTCTTCTTGGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.153799023_153799040dup , CM000667.2:g.153799023_153799040dup | GRCh38 |
| NC_000005.9:g.153178583_153178600dup , CM000667.1:g.153178583_153178600dup | GRCh37 |
| NC_000005.8:g.153158776_153158793dup | NCBI36 |
| NG_047078.1:g.314328_314345dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340592.10:c.2386-3333_2386-3316dup | ENSP00000339343.5:n.2386-3333_2386-3316dup | |
| ENST00000706733.1:c.2509-3333_2509-3316dup | ENSP00000516520.1:n.2509-3333_2509-3316dup | |
| ENST00000706734.1:c.2413-3333_2413-3316dup | ENSP00000516521.1:n.2413-3333_2413-3316dup | |
| ENST00000285900.10:c.2386-3333_2386-3316dup MANE Select | ENSP00000285900.4:n.2386-3333_2386-3316dup | |
| ENST00000285900.9:c.2386-3333_2386-3316dup | ENSP00000285900.4:n.2386-3333_2386-3316dup | |
| ENST00000340592.9:c.2386-3333_2386-3316dup | ENSP00000339343.5:n.2386-3333_2386-3316dup | |
| ENST00000448073.8:c.2416-3333_2416-3316dup | ENSP00000415569.2:n.2416-3333_2416-3316dup | |
| ENST00000518142.5:c.2146-3333_2146-3316dup | ENSP00000427920.1:n.2146-3333_2146-3316dup | |
| ENST00000518783.1:c.2416-3333_2416-3316dup | ENSP00000428994.1:n.2416-3333_2416-3316dup | |
| ENST00000521843.6:c.2179-3333_2179-3316dup | ENSP00000427864.2:n.2179-3333_2179-3316dup | |
| NM_000827.3:c.2386-3333_2386-3316dup | NP_000818.2:n.2386-3333_2386-3316dup | |
| NM_001114183.1:c.2386-3333_2386-3316dup | NP_001107655.1:n.2386-3333_2386-3316dup | |
| NM_001258019.1:c.2146-3333_2146-3316dup | NP_001244948.1:n.2146-3333_2146-3316dup | |
| NM_001258020.1:c.2101-3333_2101-3316dup | NP_001244949.1:n.2101-3333_2101-3316dup | |
| NM_001258021.1:c.2416-3333_2416-3316dup | NP_001244950.1:n.2416-3333_2416-3316dup | |
| NM_001258022.1:c.2416-3333_2416-3316dup | NP_001244951.1:n.2416-3333_2416-3316dup | |
| NM_001258023.1:c.2179-3333_2179-3316dup | NP_001244952.1:n.2179-3333_2179-3316dup | |
| NR_047578.1:n.2498-3333_2498-3316dup | ||
| XM_011537635.1:c.2326-3333_2326-3316dup | XP_011535937.1:n.2326-3333_2326-3316dup | |
| XR_427776.2:n.2541-3333_2541-3316dup | ||
| NM_001364165.1:c.2218-3333_2218-3316dup | NP_001351094.1:n.2218-3333_2218-3316dup | |
| NM_001364166.1:c.2413-3333_2413-3316dup | NP_001351095.1:n.2413-3333_2413-3316dup | |
| NM_001364167.1:c.2179-3333_2179-3316dup | NP_001351096.1:n.2179-3333_2179-3316dup | |
| NR_157093.1:n.2720-3333_2720-3316dup | ||
| XM_017009392.1:c.2426-3333_2426-3316dup | XP_016864881.1:n.2426-3333_2426-3316dup | |
| NM_000827.4:c.2386-3333_2386-3316dup MANE Select | NP_000818.2:n.2386-3333_2386-3316dup | |
| NM_001114183.2:c.2386-3333_2386-3316dup | NP_001107655.1:n.2386-3333_2386-3316dup | |
| NM_001258019.2:c.2146-3333_2146-3316dup | NP_001244948.1:n.2146-3333_2146-3316dup | |
| NM_001258020.2:c.2101-3333_2101-3316dup | NP_001244949.1:n.2101-3333_2101-3316dup | |
| NM_001258021.2:c.2416-3333_2416-3316dup | NP_001244950.1:n.2416-3333_2416-3316dup | |
| NM_001258022.2:c.2416-3333_2416-3316dup | NP_001244951.1:n.2416-3333_2416-3316dup | |
| NM_001364165.2:c.2218-3333_2218-3316dup | NP_001351094.1:n.2218-3333_2218-3316dup | |
| NM_001364166.2:c.2413-3333_2413-3316dup | NP_001351095.1:n.2413-3333_2413-3316dup | |
| NM_001364167.2:c.2179-3333_2179-3316dup | NP_001351096.1:n.2179-3333_2179-3316dup | |
| NR_047578.2:n.2352-3333_2352-3316dup | ||
| NR_157093.2:n.2720-3333_2720-3316dup |