Linked Data
ClinVar Variation Id:
431605
ClinVar RCV Id:
RCV000497233
dbSNP Id:
rs1135402828
gnomAD v3:
17-31227532-GATACAC-G
gnomAD v4:
17-31227532-GATACAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31227535_31227540del , CM000679.2:g.31227535_31227540del | GRCh38 |
| NC_000017.10:g.29554553_29554558del , CM000679.1:g.29554553_29554558del | GRCh37 |
| NC_000017.9:g.26578679_26578684del | NCBI36 |
| NG_009018.1:g.137559_137564del , LRG_214:g.137559_137564del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.2383_2388del | ENSP00000512431.1:p.Thr795_His796del | |
| ENST00000691014.1:c.2368_2373del | ENSP00000510595.1:p.Thr790_His791del | |
| ENST00000358273.9:c.2338_2343del MANE Select | ENSP00000351015.4:p.Thr780_His781del | |
| ENST00000356175.7:c.2338_2343del | ENSP00000348498.3:p.Thr780_His781del | |
| ENST00000358273.8:c.2338_2343del | ENSP00000351015.4:p.Thr780_His781del | |
| ENST00000456735.6:c.1336_1341del | ENSP00000389907.2:p.Thr446_His447del | |
| ENST00000493220.5:n.505_510del | ||
| ENST00000495910.6:c.2113_2118del | ||
| ENST00000579081.5:c.2440_2445del | ENSP00000462408.1:p.Thr814_His815del | |
| NM_000267.3:c.2338_2343del , LRG_214t1:c.2338_2343del | NP_000258.1:p.Thr780_His781del | |
| NM_001042492.2:c.2338_2343del , LRG_214t2:c.2338_2343del | NP_001035957.1:p.Thr780_His781del | |
| XM_005257983.1:c.2338_2343del | XP_005258040.1:p.Thr780_His781del | |
| XM_005257984.1:c.2338_2343del | XP_005258041.1:p.Thr780_His781del | |
| XM_006721922.1:c.2368_2373del | XP_006721985.1:p.Thr790_His791del | |
| XM_006721923.2:c.2329_2334del | XP_006721986.1:p.Thr777_His778del | |
| XM_006721924.1:c.2368_2373del | XP_006721987.1:p.Thr790_His791del | |
| XM_006721925.1:c.2368_2373del | XP_006721988.1:p.Thr790_His791del | |
| XM_006721926.2:c.2368_2373del | XP_006721989.1:p.Thr790_His791del | |
| XM_006721927.1:c.2368_2373del | XP_006721990.1:p.Thr790_His791del | |
| XM_006721928.2:c.2368_2373del | XP_006721991.1:p.Thr790_His791del | |
| XM_011524852.1:c.2365_2370del | XP_011523154.1:p.Thr789_His790del | |
| XM_011524853.1:c.2329_2334del | XP_011523155.1:p.Thr777_His778del | |
| XM_011524854.1:c.2329_2334del | XP_011523156.1:p.Thr777_His778del | |
| XM_011524855.1:c.2329_2334del | XP_011523157.1:p.Thr777_His778del | |
| XM_011524856.1:c.2329_2334del | XP_011523158.1:p.Thr777_His778del | |
| XM_011524857.1:c.2368_2373del | XP_011523159.1:p.Thr790_His791del | |
| NM_001042492.3:c.2338_2343del MANE Select | NP_001035957.1:p.Thr780_His781del |