Linked Data
ClinVar Variation Id:
372210
ClinVar RCV Id:
RCV000412533
dbSNP Id:
rs1057519080
PubMed:
PMID:27208207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74532924_74532928del , CM000664.2:g.74532924_74532928del | GRCh38 |
| NC_000002.11:g.74760051_74760055del , CM000664.1:g.74760051_74760055del | GRCh37 |
| NC_000002.10:g.74613559_74613563del | NCBI36 |
| NG_012163.1:g.8520_8524del | |
| NG_033037.1:g.1924_1928del | |
| NG_033047.1:g.26012_26016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437202.2:c.1250_1254del (HTRA2) | ENSP00000399166.2:p.Val417AspfsTer15 | |
| ENST00000462909.6:n.1066_1070del (HTRA2) | ||
| ENST00000465521.2:n.1125_1129del (HTRA2) | ||
| ENST00000467961.6:n.1050_1054del (HTRA2) | ||
| ENST00000484881.6:n.941_945del (HTRA2) | ||
| ENST00000696725.1:n.1199_1203del (HTRA2) | ||
| ENST00000696726.1:n.848_852del (HTRA2) | ||
| ENST00000696727.1:c.1220_1224del (HTRA2) | ENSP00000512836.1:p.Val407AspfsTer15 | |
| ENST00000696728.1:c.*223_*227del (HTRA2) | ENSP00000512837.1:n.*223_*227del | |
| ENST00000696729.1:n.1379_1383del (HTRA2) | ||
| ENST00000696731.1:n.1388_1392del (HTRA2) | ||
| ENST00000258080.8:c.1316_1320del (HTRA2) MANE Select | ENSP00000258080.3:p.Val439AspfsTer15 | |
| ENST00000264094.8:c.*682_*686del (LOXL3) MANE Select | ENSP00000264094.3:n.*682_*686del | |
| ENST00000258080.7:c.1316_1320del (HTRA2) | ENSP00000258080.3:p.Val439AspfsTer15 | |
| ENST00000264094.7:c.*682_*686del (LOXL3) | ENSP00000264094.3:n.*682_*686del | |
| ENST00000352222.7:c.1025_1029del (HTRA2) | ENSP00000312893.3:p.Val342AspfsTer15 | |
| ENST00000409249.5:c.*682_*686del (LOXL3) | ENSP00000387103.1:n.*682_*686del | |
| ENST00000437202.1:c.1211_1215del (HTRA2) | ENSP00000399166.1:p.Val404AspfsTer15 | |
| ENST00000462909.5:n.1066_1070del (HTRA2) | ||
| ENST00000467961.5:n.1000_1004del (HTRA2) | ||
| ENST00000470907.6:n.2327_2331del (LOXL3) | ||
| ENST00000484352.5:n.1379_1383del (HTRA2) | ||
| NM_001289164.1:c.*682_*686del (LOXL3) | NP_001276093.1:n.*682_*686del | |
| NM_001289165.1:c.*682_*686del (LOXL3) | NP_001276094.1:n.*682_*686del | |
| NM_013247.4:c.1316_1320del (HTRA2) | NP_037379.1:p.Val439AspfsTer15 | |
| NM_032603.3:c.*682_*686del (LOXL3) | NP_115992.1:n.*682_*686del | |
| NM_145074.2:c.1025_1029del (HTRA2) | NP_659540.1:p.Val342AspfsTer15 | |
| XM_005264266.2:c.1220_1224del (HTRA2) | XP_005264323.1:p.Val407AspfsTer15 | |
| NM_001289164.2:c.*682_*686del (LOXL3) | NP_001276093.1:n.*682_*686del | |
| NM_001321727.1:c.1250_1254del (HTRA2) | NP_001308656.1:p.Val417AspfsTer15 | |
| NM_001321728.1:c.1220_1224del (HTRA2) | NP_001308657.1:p.Val407AspfsTer15 | |
| NM_032603.4:c.*682_*686del (LOXL3) | NP_115992.1:n.*682_*686del | |
| NR_135769.1:n.1958_1962del (HTRA2) | ||
| NR_135770.1:n.1386_1390del (HTRA2) | ||
| NR_135771.1:n.1370_1374del (HTRA2) | ||
| NR_135772.1:n.1390_1394del (HTRA2) | ||
| NM_032603.5:c.*682_*686del (LOXL3) MANE Select | NP_115992.1:n.*682_*686del | |
| NM_001289164.3:c.*682_*686del (LOXL3) | NP_001276093.1:n.*682_*686del | |
| NM_001289165.2:c.*682_*686del (LOXL3) | NP_001276094.1:n.*682_*686del | |
| NM_013247.5:c.1316_1320del (HTRA2) MANE Select | NP_037379.1:p.Val439AspfsTer15 |