Linked Data
ClinVar Variation Id:
3018407
ClinVar RCV Id:
RCV003877070
dbSNP Id:
rs2093204117
gnomAD v4:
15-68211247-TG-T
MyVariant Identifiers:
chr15:g.68503586del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211250del , CM000677.2:g.68211250del | GRCh38 |
| NC_000015.9:g.68503588del , CM000677.1:g.68503588del | GRCh37 |
| NC_000015.8:g.66290642del | NCBI36 |
| NG_008764.2:g.50964del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.542+15del MANE Select | ENSP00000249806.5:n.542+15del | |
| ENST00000562767.2:c.84-13620del | ENSP00000456336.1:n.84-13620del | |
| ENST00000563917.2:n.384+15del | ||
| ENST00000565471.6:c.84-1489del | ENSP00000457384.1:n.84-1489del | |
| ENST00000635747.1:c.*445+15del | ENSP00000490627.1:n.*445+15del | |
| ENST00000636212.1:c.*212+15del | ENSP00000489851.1:n.*212+15del | |
| ENST00000636314.1:c.238+15del | ENSP00000490295.1:n.238+15del | |
| ENST00000636674.1:n.1644+15del | ||
| ENST00000636964.1:n.2070+15del | ||
| ENST00000637054.1:c.198+7288del | ENSP00000490807.1:n.198+7288del | |
| ENST00000637223.1:c.*256+15del | ENSP00000490010.1:n.*256+15del | |
| ENST00000637329.1:c.511+15del | ||
| ENST00000637450.1:c.*196+15del | ENSP00000490204.1:n.*196+15del | |
| ENST00000637494.1:c.254+15del | ENSP00000490057.1:n.254+15del | |
| ENST00000637667.1:c.443+15del | ENSP00000489843.1:n.443+15del | |
| ENST00000637823.1:c.367+15del | ||
| ENST00000637888.1:c.198+7288del | ENSP00000490546.1:n.198+7288del | |
| ENST00000638076.1:c.*145+15del | ENSP00000490373.1:n.*145+15del | |
| ENST00000638144.1:n.185+15del | ||
| ENST00000646164.1:c.38+7288del | ||
| ENST00000249806.9:c.542+15del | ENSP00000249806.5:n.542+15del | |
| ENST00000538696.5:c.638+15del | ENSP00000445770.1:n.638+15del | |
| ENST00000562767.1:c.84-13620del | ENSP00000456336.1:n.84-13620del | |
| ENST00000563917.1:n.442+15del | ||
| ENST00000564752.1:c.568+15del | ENSP00000457822.1:n.568+15del | |
| ENST00000565471.5:c.84-1489del | ENSP00000457384.1:n.84-1489del | |
| ENST00000566347.5:c.353+15del | ENSP00000457783.1:n.353+15del | |
| ENST00000567060.5:c.298-1528del | ENSP00000454818.1:n.298-1528del | |
| NM_017882.2:c.542+15del | NP_060352.1:n.542+15del | |
| XR_931861.1:n.764+15del | ||
| NM_017882.3:c.542+15del MANE Select | NP_060352.1:n.542+15del |