Linked Data
ClinVar Variation Id:
229712
ClinVar RCV Id:
RCV000219431
RCV000396476
RCV000543566
RCV000576546
RCV000589475
RCV001804172
RCV003155931
RCV003462403
dbSNP Id:
rs778664039
ExAC:
17:59761013 AATAG / A
gnomAD v2:
17-59761013-AATAG-A
gnomAD v3:
17-61683652-AATAG-A
gnomAD v4:
17-61683652-AATAG-A
COSMIC:
COSM391031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683659_61683662del , CM000679.2:g.61683659_61683662del | GRCh38 |
| NC_000017.10:g.59761020_59761023del , CM000679.1:g.59761020_59761023del | GRCh37 |
| NC_000017.9:g.57115802_57115805del | NCBI36 |
| NG_007409.2:g.184904_184907del , LRG_300:g.184904_184907del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2130_2133del | ||
| ENST00000682453.1:c.3390_3393del | ENSP00000506943.1:p.Tyr1131LeufsTer18 | |
| ENST00000682477.1:c.*2816_*2819del | ENSP00000507075.1:n.*2816_*2819del | |
| ENST00000682589.1:n.9267_9270del | ||
| ENST00000682755.1:c.3168_3171del | ENSP00000507660.1:p.Tyr1057LeufsTer18 | |
| ENST00000682989.1:c.*481_*484del | ENSP00000507786.1:n.*481_*484del | |
| ENST00000683039.1:c.3390_3393del | ENSP00000508303.1:p.Tyr1131LeufsTer18 | |
| ENST00000683235.1:c.*805_*808del | ENSP00000507646.1:n.*805_*808del | |
| ENST00000683535.1:n.1520_1523del | ||
| ENST00000684584.1:c.2553_2556del | ENSP00000508044.1:p.Tyr852LeufsTer18 | |
| ENST00000684626.1:n.1636_1639del | ||
| ENST00000684769.1:c.1580_1583del | ENSP00000507691.1:n.1580_1583del | |
| ENST00000259008.7:c.3390_3393del MANE Select | ENSP00000259008.2:p.Tyr1131LeufsTer18 | |
| ENST00000259008.6:c.3390_3393del | ENSP00000259008.2:p.Tyr1131LeufsTer18 | |
| NM_032043.2:c.3390_3393del , LRG_300t1:c.3390_3393del | NP_114432.2:p.Tyr1131LeufsTer18 | |
| XM_011525332.1:c.3450_3453del | XP_011523634.1:p.Tyr1151LeufsTer18 | |
| XM_011525333.1:c.3450_3453del | XP_011523635.1:p.Tyr1151LeufsTer18 | |
| XM_011525334.1:c.3450_3453del | XP_011523636.1:p.Tyr1151LeufsTer18 | |
| XM_011525335.1:c.3390_3393del | XP_011523637.1:p.Tyr1131LeufsTer18 | |
| XM_011525336.1:c.3330_3333del | XP_011523638.1:p.Tyr1111LeufsTer18 | |
| XM_011525337.1:c.3249_3252del | XP_011523639.1:p.Tyr1084LeufsTer18 | |
| XM_011525338.1:c.2967_2970del | XP_011523640.1:p.Tyr990LeufsTer18 | |
| XM_011525332.3:c.3450_3453del | XP_011523634.1:p.Tyr1151LeufsTer18 | |
| XM_011525333.3:c.3450_3453del | XP_011523635.1:p.Tyr1151LeufsTer18 | |
| XM_011525334.2:c.3450_3453del | XP_011523636.1:p.Tyr1151LeufsTer18 | |
| XM_011525335.3:c.3390_3393del | XP_011523637.1:p.Tyr1131LeufsTer18 | |
| XM_011525336.2:c.3330_3333del | XP_011523638.1:p.Tyr1111LeufsTer18 | |
| XM_011525337.2:c.3249_3252del | XP_011523639.1:p.Tyr1084LeufsTer18 | |
| XM_011525338.2:c.2967_2970del | XP_011523640.1:p.Tyr990LeufsTer18 | |
| XM_017025200.1:c.2907_2910del | XP_016880689.1:p.Tyr970LeufsTer18 | |
| XM_017025201.1:c.2907_2910del | XP_016880690.1:p.Tyr970LeufsTer18 | |
| XM_017025202.1:c.1536_1539del | XP_016880691.1:p.Tyr513LeufsTer18 | |
| XM_017025203.1:c.1536_1539del | XP_016880692.1:p.Tyr513LeufsTer18 | |
| NM_032043.3:c.3390_3393del MANE Select | NP_114432.2:p.Tyr1131LeufsTer18 |