Linked Data
ClinVar Variation Id:
2627171
ClinVar RCV Id:
RCV003388365
dbSNP Id:
rs2093204286
gnomAD v3:
15-68211292-ATAG-A
gnomAD v4:
15-68211292-ATAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211296_68211298del , CM000677.2:g.68211296_68211298del | GRCh38 |
| NC_000015.9:g.68503634_68503636del , CM000677.1:g.68503634_68503636del | GRCh37 |
| NC_000015.8:g.66290688_66290690del | NCBI36 |
| NG_008764.2:g.50917_50919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.510_512del MANE Select | ENSP00000249806.5:p.Tyr171del | |
| ENST00000562767.2:c.84-13667_84-13665del | ENSP00000456336.1:n.84-13667_84-13665del | |
| ENST00000563917.2:n.352_354del | ||
| ENST00000565471.6:c.84-1536_84-1534del | ENSP00000457384.1:n.84-1536_84-1534del | |
| ENST00000635747.1:c.*413_*415del | ENSP00000490627.1:n.*413_*415del | |
| ENST00000636212.1:c.*180_*182del | ENSP00000489851.1:n.*180_*182del | |
| ENST00000636314.1:c.206_208del | ENSP00000490295.1:p.Thr69del | |
| ENST00000636674.1:n.1612_1614del | ||
| ENST00000636964.1:n.2038_2040del | ||
| ENST00000637054.1:c.198+7241_198+7243del | ENSP00000490807.1:n.198+7241_198+7243del | |
| ENST00000637223.1:c.*224_*226del | ENSP00000490010.1:n.*224_*226del | |
| ENST00000637329.1:c.479_481del | ||
| ENST00000637450.1:c.*164_*166del | ENSP00000490204.1:n.*164_*166del | |
| ENST00000637494.1:c.222_224del | ENSP00000490057.1:p.Tyr75del | |
| ENST00000637667.1:c.411_413del | ENSP00000489843.1:p.Tyr138del | |
| ENST00000637823.1:c.335_337del | ||
| ENST00000637888.1:c.198+7241_198+7243del | ENSP00000490546.1:n.198+7241_198+7243del | |
| ENST00000638076.1:c.*113_*115del | ENSP00000490373.1:n.*113_*115del | |
| ENST00000638144.1:n.153_155del | ||
| ENST00000646164.1:c.38+7241_38+7243del | ||
| ENST00000249806.9:c.510_512del | ENSP00000249806.5:p.Tyr171del | |
| ENST00000538696.5:c.606_608del | ENSP00000445770.1:p.Tyr203del | |
| ENST00000562767.1:c.84-13667_84-13665del | ENSP00000456336.1:n.84-13667_84-13665del | |
| ENST00000563917.1:n.410_412del | ||
| ENST00000564752.1:c.536_538del | ENSP00000457822.1:p.Thr179del | |
| ENST00000565471.5:c.84-1536_84-1534del | ENSP00000457384.1:n.84-1536_84-1534del | |
| ENST00000566347.5:c.321_323del | ENSP00000457783.1:p.Tyr108del | |
| ENST00000567060.5:c.298-1575_298-1573del | ENSP00000454818.1:n.298-1575_298-1573del | |
| NM_017882.2:c.510_512del | NP_060352.1:p.Tyr171del | |
| XR_931861.1:n.732_734del | ||
| NM_017882.3:c.510_512del MANE Select | NP_060352.1:p.Tyr171del |