Linked Data
ClinVar Variation Id:
188402
ClinVar RCV Id:
RCV000168472
RCV000485677
RCV001020125
RCV001355547
RCV003321537
RCV003491923
RCV003483553
dbSNP Id:
rs745344948
ExAC:
17:59761030 TCTG / T
gnomAD v2:
17-59761030-TCTG-T
gnomAD v3:
17-61683669-TCTG-T
gnomAD v4:
17-61683669-TCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683672_61683674del , CM000679.2:g.61683672_61683674del | GRCh38 |
| NC_000017.10:g.59761033_59761035del , CM000679.1:g.59761033_59761035del | GRCh37 |
| NC_000017.9:g.57115815_57115817del | NCBI36 |
| NG_007409.2:g.184888_184890del , LRG_300:g.184888_184890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2114_2116del | ||
| ENST00000682453.1:c.3374_3376del | ENSP00000506943.1:p.Ala1125del | |
| ENST00000682477.1:c.*2800_*2802del | ENSP00000507075.1:n.*2800_*2802del | |
| ENST00000682589.1:n.9251_9253del | ||
| ENST00000682755.1:c.3152_3154del | ENSP00000507660.1:p.Ala1051del | |
| ENST00000682989.1:c.*465_*467del | ENSP00000507786.1:n.*465_*467del | |
| ENST00000683039.1:c.3374_3376del | ENSP00000508303.1:p.Ala1125del | |
| ENST00000683235.1:c.*789_*791del | ENSP00000507646.1:n.*789_*791del | |
| ENST00000683535.1:n.1504_1506del | ||
| ENST00000684584.1:c.2537_2539del | ENSP00000508044.1:p.Ala846del | |
| ENST00000684626.1:n.1620_1622del | ||
| ENST00000684769.1:c.1564_1566del | ENSP00000507691.1:n.1564_1566del | |
| ENST00000259008.7:c.3374_3376del MANE Select | ENSP00000259008.2:p.Ala1125del | |
| ENST00000259008.6:c.3374_3376del | ENSP00000259008.2:p.Ala1125del | |
| NM_032043.2:c.3374_3376del , LRG_300t1:c.3374_3376del | NP_114432.2:p.Ala1125del | |
| XM_011525332.1:c.3434_3436del | XP_011523634.1:p.Ala1145del | |
| XM_011525333.1:c.3434_3436del | XP_011523635.1:p.Ala1145del | |
| XM_011525334.1:c.3434_3436del | XP_011523636.1:p.Ala1145del | |
| XM_011525335.1:c.3374_3376del | XP_011523637.1:p.Ala1125del | |
| XM_011525336.1:c.3314_3316del | XP_011523638.1:p.Ala1105del | |
| XM_011525337.1:c.3233_3235del | XP_011523639.1:p.Ala1078del | |
| XM_011525338.1:c.2951_2953del | XP_011523640.1:p.Ala984del | |
| XM_011525332.3:c.3434_3436del | XP_011523634.1:p.Ala1145del | |
| XM_011525333.3:c.3434_3436del | XP_011523635.1:p.Ala1145del | |
| XM_011525334.2:c.3434_3436del | XP_011523636.1:p.Ala1145del | |
| XM_011525335.3:c.3374_3376del | XP_011523637.1:p.Ala1125del | |
| XM_011525336.2:c.3314_3316del | XP_011523638.1:p.Ala1105del | |
| XM_011525337.2:c.3233_3235del | XP_011523639.1:p.Ala1078del | |
| XM_011525338.2:c.2951_2953del | XP_011523640.1:p.Ala984del | |
| XM_017025200.1:c.2891_2893del | XP_016880689.1:p.Ala964del | |
| XM_017025201.1:c.2891_2893del | XP_016880690.1:p.Ala964del | |
| XM_017025202.1:c.1520_1522del | XP_016880691.1:p.Ala507del | |
| XM_017025203.1:c.1520_1522del | XP_016880692.1:p.Ala507del | |
| NM_032043.3:c.3374_3376del MANE Select | NP_114432.2:p.Ala1125del |