Linked Data
dbSNP Id:
rs780702866
ExAC:
1:210977541 TA / T
gnomAD v2:
1-210977541-TA-T
gnomAD v3:
1-210804199-TA-T
gnomAD v4:
1-210804199-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210804201del , CM000663.2:g.210804201del | GRCh38 |
| NC_000001.10:g.210977543del , CM000663.1:g.210977543del | GRCh37 |
| NC_000001.9:g.209044166del | NCBI36 |
| NG_029777.1:g.334916del | |
| NG_029777.2:g.334916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1463-34del MANE Select | ENSP00000271751.4:n.1463-34del | |
| ENST00000367007.5:c.1382-34del | ENSP00000355974.5:n.1382-34del | |
| ENST00000638357.1:c.796-34del | ||
| ENST00000638498.1:c.1463-34del | ENSP00000490983.1:n.1463-34del | |
| ENST00000638960.1:c.1382-34del | ENSP00000492302.1:n.1382-34del | |
| ENST00000639952.1:c.1382-34del | ENSP00000492697.1:n.1382-34del | |
| ENST00000640044.1:c.311-34del | ENSP00000491434.1:n.311-34del | |
| ENST00000640243.1:c.952-34del | ENSP00000492803.1:n.952-34del | |
| ENST00000640522.1:c.1033-34del | ENSP00000491019.1:n.1033-34del | |
| ENST00000640528.1:c.1382-34del | ENSP00000491725.1:n.1382-34del | |
| ENST00000640566.1:c.311-28656del | ENSP00000491302.1:n.311-28656del | |
| ENST00000640710.1:c.1382-34del | ENSP00000492513.1:n.1382-34del | |
| ENST00000271751.8:c.1463-34del | ENSP00000271751.4:n.1463-34del | |
| ENST00000367007.4:c.1382-34del | ENSP00000355974.4:n.1382-34del | |
| NM_002238.3:c.1382-34del | NP_002229.1:n.1382-34del | |
| NM_172362.2:c.1463-34del | NP_758872.1:n.1463-34del | |
| XM_011509514.1:c.287-34del | XP_011507816.1:n.287-34del | |
| XM_017001246.1:c.287-34del | XP_016856735.1:n.287-34del | |
| NM_172362.3:c.1463-34del MANE Select | NP_758872.1:n.1463-34del | |
| NM_002238.4:c.1382-34del | NP_002229.1:n.1382-34del |