Linked Data
dbSNP Id:
rs1320540051
gnomAD v2:
16-10070508-ACT-A
gnomAD v3:
16-9976651-ACT-A
gnomAD v4:
16-9976651-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9976652_9976653del , CM000678.2:g.9976652_9976653del | GRCh38 |
| NC_000016.9:g.10070509_10070510del , CM000678.1:g.10070509_10070510del | GRCh37 |
| NC_000016.8:g.9978010_9978011del | NCBI36 |
| NG_011812.1:g.211102_211103del | |
| NG_011812.2:g.211102_211103del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.415-38102_415-38101del MANE Select | ENSP00000332549.3:n.415-38102_415-38101de... | |
| ENST00000637393.1:c.7-38102_7-38101del | ENSP00000490232.1:n.7-38102_7-38101del | |
| ENST00000674742.1:c.-57-38102_-57-38101del | ENSP00000502200.1:n.-57-38102_-57-38101de... | |
| ENST00000675189.1:n.899-38102_899-38101del | ||
| ENST00000675398.1:c.415-38102_415-38101del | ENSP00000502752.1:n.415-38102_415-38101de... | |
| ENST00000330684.3:c.415-38102_415-38101del | ENSP00000332549.3:n.415-38102_415-38101de... | |
| ENST00000396573.6:c.415-38102_415-38101del | ENSP00000379818.2:n.415-38102_415-38101de... | |
| ENST00000562109.5:c.415-38102_415-38101del | ENSP00000454998.1:n.415-38102_415-38101de... | |
| ENST00000566670.2:n.257-38102_257-38101del | ||
| ENST00000566683.1:n.240+54672_240+54673del | ||
| ENST00000568247.3:n.141-33357_141-33356del | ||
| NM_000833.4:c.415-38102_415-38101del | NP_000824.1:n.415-38102_415-38101del | |
| NM_001134407.2:c.415-38102_415-38101del | NP_001127879.1:n.415-38102_415-38101del | |
| NM_001134408.2:c.415-38102_415-38101del | NP_001127880.1:n.415-38102_415-38101del | |
| XM_011522456.1:c.256-38102_256-38101del | XP_011520758.1:n.256-38102_256-38101del | |
| XM_011522458.1:c.-57-38102_-57-38101del | XP_011520760.1:n.-57-38102_-57-38101del | |
| XM_011522459.1:c.-201-21953_-201-21952del | XP_011520761.1:n.-201-21953_-201-21952del... | |
| XM_011522460.1:c.-197-21957_-197-21956del | XP_011520762.1:n.-197-21957_-197-21956del... | |
| XM_011522461.1:c.415-38102_415-38101del | XP_011520763.1:n.415-38102_415-38101del | |
| XM_011522458.3:c.-57-38102_-57-38101del | XP_011520760.1:n.-57-38102_-57-38101del | |
| XM_011522461.3:c.415-38102_415-38101del | XP_011520763.1:n.415-38102_415-38101del | |
| XM_017023172.1:c.571-38102_571-38101del | XP_016878661.1:n.571-38102_571-38101del | |
| XM_017023173.1:c.571-38102_571-38101del | XP_016878662.1:n.571-38102_571-38101del | |
| NM_001134407.3:c.415-38102_415-38101del MANE Select | NP_001127879.1:n.415-38102_415-38101del | |
| NM_000833.5:c.415-38102_415-38101del | NP_000824.1:n.415-38102_415-38101del |