Linked Data
dbSNP Id:
rs750756196
ExAC:
16:2142609 TCA / T
gnomAD v2:
16-2142609-TCA-T
gnomAD v3:
16-2092608-TCA-T
gnomAD v4:
16-2092608-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092612_2092613del , CM000678.2:g.2092612_2092613del | GRCh38 |
| NC_000016.9:g.2142613_2142614del , CM000678.1:g.2142613_2142614del | GRCh37 |
| NC_000016.8:g.2082614_2082615del | NCBI36 |
| NG_008617.1:g.50611_50612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11157-18_11157-17del (PKD1) MANE Select | ENSP00000262304.4:n.11157-18_11157-17del | |
| ENST00000262304.8:c.11157-18_11157-17del (PKD1) | ENSP00000262304.4:n.11157-18_11157-17del | |
| ENST00000423118.5:c.11154-18_11154-17del (PKD1) | ENSP00000399501.1:n.11154-18_11154-17del | |
| ENST00000487932.5:c.5719-18_5719-17del (PKD1) | ENSP00000457132.1:n.5719-18_5719-17del | |
| ENST00000562425.1:c.270-18_270-17del (PKD1) | ||
| ENST00000567355.1:n.302_303del (PKD1) | ||
| NM_000296.3:c.11154-18_11154-17del (PKD1) | NP_000287.3:n.11154-18_11154-17del | |
| NM_001009944.2:c.11157-18_11157-17del (PKD1) | NP_001009944.2:n.11157-18_11157-17del | |
| XM_005255370.2:c.8112-18_8112-17del (PKD1) | XP_005255427.1:n.8112-18_8112-17del | |
| XM_011522525.1:c.11235-18_11235-17del (PKD1) | XP_011520827.1:n.11235-18_11235-17del | |
| XM_011522526.1:c.11232-18_11232-17del (PKD1) | XP_011520828.1:n.11232-18_11232-17del | |
| XM_011522527.1:c.11217-18_11217-17del (PKD1) | XP_011520829.1:n.11217-18_11217-17del | |
| XM_011522528.1:c.11211-18_11211-17del (PKD1) | XP_011520830.1:n.11211-18_11211-17del | |
| XM_011522529.1:c.11208-18_11208-17del (PKD1) | XP_011520831.1:n.11208-18_11208-17del | |
| XM_011522530.1:c.11181-18_11181-17del (PKD1) | XP_011520832.1:n.11181-18_11181-17del | |
| XM_011522531.1:c.11163-18_11163-17del (PKD1) | XP_011520833.1:n.11163-18_11163-17del | |
| XM_011522532.1:c.11109-18_11109-17del (PKD1) | XP_011520834.1:n.11109-18_11109-17del | |
| XM_011522533.1:c.11028-18_11028-17del (PKD1) | XP_011520835.1:n.11028-18_11028-17del | |
| XM_011522534.1:c.10971-18_10971-17del (PKD1) | XP_011520836.1:n.10971-18_10971-17del | |
| XM_011522535.1:c.9057-18_9057-17del (PKD1) | XP_011520837.1:n.9057-18_9057-17del | |
| XM_011522537.1:c.8235-18_8235-17del (PKD1) | XP_011520839.1:n.8235-18_8235-17del | |
| XR_932867.1:n.11250-18_11250-17del (PKD1) | ||
| XR_932868.1:n.11110-422_11110-421del (PKD1) | ||
| XR_932869.1:n.11110-422_11110-421del (PKD1) | ||
| XR_932870.1:n.11110-18_11110-17del (PKD1) | ||
| XR_933000.1:n.90-277_90-276del (PKD1-AS1) | ||
| XR_933001.1:n.180-277_180-276del (PKD1-AS1) | ||
| XR_933002.1:n.89-277_89-276del (PKD1-AS1) | ||
| XR_933003.1:n.89-277_89-276del (PKD1-AS1) | ||
| NR_135175.1:n.180-277_180-276del (PKD1-AS1) | ||
| XM_005255370.3:c.8112-18_8112-17del (PKD1) | XP_005255427.1:n.8112-18_8112-17del | |
| XM_011522528.3:c.11211-18_11211-17del (PKD1) | XP_011520830.1:n.11211-18_11211-17del | |
| XM_011522529.2:c.11208-18_11208-17del (PKD1) | XP_011520831.1:n.11208-18_11208-17del | |
| XM_011522537.2:c.8235-18_8235-17del (PKD1) | XP_011520839.1:n.8235-18_8235-17del | |
| XM_024450298.1:c.11277-18_11277-17del (PKD1) | XP_024306066.1:n.11277-18_11277-17del | |
| XM_024450299.1:c.11205-18_11205-17del (PKD1) | XP_024306067.1:n.11205-18_11205-17del | |
| XM_024450300.1:c.11067-18_11067-17del (PKD1) | XP_024306068.1:n.11067-18_11067-17del | |
| XM_024450301.1:c.9153-18_9153-17del (PKD1) | XP_024306069.1:n.9153-18_9153-17del | |
| NM_000296.4:c.11154-18_11154-17del (PKD1) | NP_000287.4:n.11154-18_11154-17del | |
| NM_001009944.3:c.11157-18_11157-17del (PKD1) MANE Select | NP_001009944.3:n.11157-18_11157-17del |