Linked Data
ClinVar Variation Id:
461087
dbSNP Id:
rs766199221
ExAC:
17:59857614 CAACT / C
gnomAD v2:
17-59857614-CAACT-C
gnomAD v4:
17-61780253-CAACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61780257_61780260del , CM000679.2:g.61780257_61780260del | GRCh38 |
| NC_000017.10:g.59857618_59857621del , CM000679.1:g.59857618_59857621del | GRCh37 |
| NC_000017.9:g.57212400_57212403del | NCBI36 |
| NG_007409.2:g.88303_88306del , LRG_300:g.88303_88306del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1517+4_1517+7del | ENSP00000463827.2:n.1517+4_1517+7del | |
| ENST00000584322.2:c.1935+4_1935+7del | ENSP00000463272.2:n.1935+4_1935+7del | |
| ENST00000682066.1:c.1428+4_1428+7del | ENSP00000507191.1:n.1428+4_1428+7del | |
| ENST00000682073.1:n.675+4_675+7del | ||
| ENST00000682453.1:c.1935+4_1935+7del | ENSP00000506943.1:n.1935+4_1935+7del | |
| ENST00000682477.1:c.*1361+4_*1361+7del | ENSP00000507075.1:n.*1361+4_*1361+7del | |
| ENST00000682589.1:n.4118_4121del | ||
| ENST00000682611.1:c.1428+4_1428+7del | ENSP00000508326.1:n.1428+4_1428+7del | |
| ENST00000682755.1:c.1713+4_1713+7del | ENSP00000507660.1:n.1713+4_1713+7del | |
| ENST00000682989.1:c.1935+4_1935+7del | ENSP00000507786.1:n.1935+4_1935+7del | |
| ENST00000683039.1:c.1935+4_1935+7del | ENSP00000508303.1:n.1935+4_1935+7del | |
| ENST00000683235.1:c.1935+4_1935+7del | ENSP00000507646.1:n.1935+4_1935+7del | |
| ENST00000683381.1:c.1935+4_1935+7del | ENSP00000508184.1:n.1935+4_1935+7del | |
| ENST00000684471.1:n.408+4_408+7del | ||
| ENST00000684584.1:c.1428+4_1428+7del | ENSP00000508044.1:n.1428+4_1428+7del | |
| ENST00000259008.7:c.1935+4_1935+7del MANE Select | ENSP00000259008.2:n.1935+4_1935+7del | |
| ENST00000259008.6:c.1935+4_1935+7del | ENSP00000259008.2:n.1935+4_1935+7del | |
| ENST00000577598.5:c.1935+4_1935+7del | ENSP00000464654.1:n.1935+4_1935+7del | |
| ENST00000579028.1:c.628+4_628+7del | ||
| ENST00000583837.5:n.17+4_17+7del | ||
| NM_032043.2:c.1935+4_1935+7del , LRG_300t1:c.1935+4_1935+7del | NP_114432.2:n.1935+4_1935+7del | |
| XM_011525332.1:c.1935+4_1935+7del | XP_011523634.1:n.1935+4_1935+7del | |
| XM_011525333.1:c.1935+4_1935+7del | XP_011523635.1:n.1935+4_1935+7del | |
| XM_011525334.1:c.1935+4_1935+7del | XP_011523636.1:n.1935+4_1935+7del | |
| XM_011525335.1:c.1935+4_1935+7del | XP_011523637.1:n.1935+4_1935+7del | |
| XM_011525336.1:c.1935+4_1935+7del | XP_011523638.1:n.1935+4_1935+7del | |
| XM_011525337.1:c.1794+583_1794+586del | XP_011523639.1:n.1794+583_1794+586del | |
| XM_011525338.1:c.1452+4_1452+7del | XP_011523640.1:n.1452+4_1452+7del | |
| XM_011525339.1:c.1935+4_1935+7del | XP_011523641.1:n.1935+4_1935+7del | |
| XM_011525340.1:c.1935+4_1935+7del | XP_011523642.1:n.1935+4_1935+7del | |
| XM_011525341.1:c.1935+4_1935+7del | XP_011523643.1:n.1935+4_1935+7del | |
| XM_011525332.3:c.1935+4_1935+7del | XP_011523634.1:n.1935+4_1935+7del | |
| XM_011525333.3:c.1935+4_1935+7del | XP_011523635.1:n.1935+4_1935+7del | |
| XM_011525334.2:c.1935+4_1935+7del | XP_011523636.1:n.1935+4_1935+7del | |
| XM_011525335.3:c.1935+4_1935+7del | XP_011523637.1:n.1935+4_1935+7del | |
| XM_011525336.2:c.1935+4_1935+7del | XP_011523638.1:n.1935+4_1935+7del | |
| XM_011525337.2:c.1794+583_1794+586del | XP_011523639.1:n.1794+583_1794+586del | |
| XM_011525338.2:c.1452+4_1452+7del | XP_011523640.1:n.1452+4_1452+7del | |
| XM_011525339.3:c.1935+4_1935+7del | XP_011523641.1:n.1935+4_1935+7del | |
| XM_011525340.3:c.1935+4_1935+7del | XP_011523642.1:n.1935+4_1935+7del | |
| XM_011525341.3:c.1935+4_1935+7del | XP_011523643.1:n.1935+4_1935+7del | |
| XM_017025200.1:c.1452+4_1452+7del | XP_016880689.1:n.1452+4_1452+7del | |
| XM_017025201.1:c.1392+4_1392+7del | XP_016880690.1:n.1392+4_1392+7del | |
| XM_017025203.1:c.-26+4_-26+7del | XP_016880692.1:n.-26+4_-26+7del | |
| NM_032043.3:c.1935+4_1935+7del MANE Select | NP_114432.2:n.1935+4_1935+7del |