Linked Data
ClinVar Variation Id:
2898938
ClinVar RCV Id:
RCV003728717
gnomAD v3:
11-6616506-GGA-G
gnomAD v4:
11-6616506-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616507_6616508del , CM000673.2:g.6616507_6616508del | GRCh38 |
| NC_000011.9:g.6637738_6637739del , CM000673.1:g.6637738_6637739del | GRCh37 |
| NC_000011.8:g.6594314_6594315del | NCBI36 |
| NG_008653.1:g.7954_7955del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.773-5_773-4del | ENSP00000507321.1:n.773-5_773-4del | |
| ENST00000299427.12:c.887-5_887-4del MANE Select | ENSP00000299427.6:n.887-5_887-4del | |
| ENST00000436873.7:c.313-434_313-433del | ||
| ENST00000530040.2:n.480-5_480-4del | ||
| ENST00000533371.6:c.158-5_158-4del | ENSP00000437066.1:n.158-5_158-4del | |
| ENST00000642892.1:c.158-5_158-4del | ENSP00000494165.1:n.158-5_158-4del | |
| ENST00000643439.1:c.*627-5_*627-4del | ENSP00000495849.1:n.*627-5_*627-4del | |
| ENST00000643479.1:n.1068_1069del | ||
| ENST00000643516.1:c.396-5_396-4del | ||
| ENST00000644218.1:c.886+153_886+154del | ENSP00000493574.1:n.886+153_886+154del | |
| ENST00000644683.1:c.*340-5_*340-4del | ENSP00000494085.1:n.*340-5_*340-4del | |
| ENST00000644810.1:c.608-5_608-4del | ENSP00000495895.1:n.608-5_608-4del | |
| ENST00000644831.1:n.1063-5_1063-4del | ||
| ENST00000644933.1:c.158-5_158-4del | ENSP00000496133.1:n.158-5_158-4del | |
| ENST00000645285.1:c.157+153_157+154del | ENSP00000495058.1:n.157+153_157+154del | |
| ENST00000645331.1:n.1405_1406del | ||
| ENST00000645620.1:c.158-5_158-4del | ENSP00000493657.1:n.158-5_158-4del | |
| ENST00000646777.1:n.1215_1216del | ||
| ENST00000647016.1:n.1367-5_1367-4del | ||
| ENST00000647152.1:c.158-5_158-4del | ENSP00000495893.1:n.158-5_158-4del | |
| ENST00000647209.1:c.*756-5_*756-4del | ENSP00000495558.1:n.*756-5_*756-4del | |
| ENST00000647346.1:n.1907-5_1907-4del | ||
| ENST00000299427.10:c.887-5_887-4del | ENSP00000299427.6:n.887-5_887-4del | |
| ENST00000436873.6:c.451-5_451-4del | ENSP00000398136.2:n.451-5_451-4del | |
| ENST00000533371.5:c.158-5_158-4del | ENSP00000437066.1:n.158-5_158-4del | |
| ENST00000611494.4:c.887-5_887-4del | ENSP00000484546.1:n.887-5_887-4del | |
| NM_000391.3:c.887-5_887-4del | NP_000382.3:n.887-5_887-4del | |
| NM_000391.4:c.887-5_887-4del MANE Select | NP_000382.3:n.887-5_887-4del |