Linked Data
ClinVar Variation Id:
333614
ClinVar RCV Id:
RCV000347865
dbSNP Id:
rs3835911
ExAC:
2:203079167 TAAAAAAG / T
gnomAD v2:
2-203079167-TAAAAAAG-T
gnomAD v3:
2-202214444-TAAAAAAG-T
gnomAD v4:
2-202214444-TAAAAAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202214451_202214457del , CM000664.2:g.202214451_202214457del | GRCh38 |
| NC_000002.11:g.203079174_203079180del , CM000664.1:g.203079174_203079180del | GRCh37 |
| NC_000002.10:g.202787419_202787425del | NCBI36 |
| NG_011679.1:g.29149_29155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392246.7:c.88-17_88-11del MANE Select | ENSP00000376077.2:n.88-17_88-11del | |
| ENST00000392244.7:c.13-17_13-11del | ENSP00000376075.3:n.13-17_13-11del | |
| ENST00000392245.5:c.88-17_88-11del | ENSP00000376076.1:n.88-17_88-11del | |
| ENST00000392246.6:c.88-17_88-11del | ENSP00000376077.2:n.88-17_88-11del | |
| ENST00000409181.1:c.88-17_88-11del | ENSP00000386753.1:n.88-17_88-11del | |
| ENST00000409205.5:c.-25-22_-25-16del | ENSP00000386267.1:n.-25-22_-25-16del | |
| ENST00000409368.5:c.88-17_88-11del | ENSP00000387204.1:n.88-17_88-11del | |
| ENST00000409498.6:c.-30-17_-30-11del | ENSP00000386472.2:n.-30-17_-30-11del | |
| ENST00000409627.6:c.*56-17_*56-11del | ENSP00000386500.2:n.*56-17_*56-11del | |
| ENST00000409712.5:c.88-17_88-11del | ENSP00000386296.1:n.88-17_88-11del | |
| ENST00000469034.1:n.286-17_286-11del | ||
| NM_001005781.1:c.88-17_88-11del | NP_001005781.1:n.88-17_88-11del | |
| NM_001005782.1:c.13-17_13-11del | NP_001005782.1:n.13-17_13-11del | |
| NM_003352.4:c.88-17_88-11del | NP_003343.1:n.88-17_88-11del | |
| NM_001005781.2:c.88-17_88-11del | NP_001005781.1:n.88-17_88-11del | |
| NM_001005782.2:c.13-17_13-11del | NP_001005782.1:n.13-17_13-11del | |
| NM_001371392.1:c.85-17_85-11del | NP_001358321.1:n.85-17_85-11del | |
| NM_001371393.1:c.88-17_88-11del | NP_001358322.1:n.88-17_88-11del | |
| NM_001371394.1:c.88-17_88-11del | NP_001358323.1:n.88-17_88-11del | |
| NM_003352.8:c.88-17_88-11del MANE Select | NP_003343.1:n.88-17_88-11del | |
| NR_163943.1:n.234-17_234-11del |