Linked Data
ClinVar Variation Id:
333259
ClinVar RCV Id:
RCV000385396
dbSNP Id:
rs201656062
gnomAD v2:
2-191834967-AC-A
gnomAD v3:
2-190970241-AC-A
gnomAD v4:
2-190970241-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190970242del , CM000664.2:g.190970242del | GRCh38 |
| NC_000002.11:g.191834968del , CM000664.1:g.191834968del | GRCh37 |
| NC_000002.10:g.191543213del | NCBI36 |
| NG_008294.1:g.49009del , LRG_111:g.49009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698141.1:c.*461del | ENSP00000513582.1:n.*461del | |
| ENST00000698142.1:c.*461del | ENSP00000513583.1:n.*461del | |
| ENST00000698143.1:n.4587del | ||
| ENST00000698144.1:c.*2542del | ENSP00000513584.1:n.*2542del | |
| ENST00000698145.1:c.634-493del | ENSP00000513585.1:n.634-493del | |
| ENST00000698146.1:c.*3343del | ENSP00000513586.1:n.*3343del | |
| ENST00000698147.1:n.5113del | ||
| ENST00000698148.1:n.5443del | ||
| ENST00000698149.1:c.*1019del | ENSP00000513587.1:n.*1019del | |
| ENST00000361099.8:c.*461del MANE Select | ENSP00000354394.4:n.*461del | |
| ENST00000415035.2:c.*205+256del | ENSP00000388240.2:n.*205+256del | |
| ENST00000423282.2:c.*840del | ENSP00000388772.2:n.*840del | |
| ENST00000540176.6:c.*461del | ENSP00000438703.2:n.*461del | |
| ENST00000673734.1:c.*1881del | ENSP00000501040.1:n.*1881del | |
| ENST00000673762.1:n.1213del | ||
| ENST00000673777.1:c.*461del | ENSP00000500982.1:n.*461del | |
| ENST00000673816.1:c.2238+4588del | ENSP00000501127.1:n.2238+4588del | |
| ENST00000673832.1:n.1266del | ||
| ENST00000673847.1:c.2238+4588del | ENSP00000501185.1:n.2238+4588del | |
| ENST00000673858.1:c.*2040del | ENSP00000501196.1:n.*2040del | |
| ENST00000673863.1:c.1423del | ENSP00000501286.1:n.1423del | |
| ENST00000673942.1:c.*461del | ENSP00000501145.1:n.*461del | |
| ENST00000674028.1:n.1167del | ||
| ENST00000674081.1:c.*642del | ENSP00000501289.1:n.*642del | |
| ENST00000361099.7:c.*461del | ENSP00000354394.3:n.*461del | |
| ENST00000415035.1:c.326+256del | ||
| ENST00000540176.5:c.*2040del | ENSP00000438703.1:n.*2040del | |
| NM_007315.3:c.*461del , LRG_111t1:c.*461del | NP_009330.1:n.*461del | |
| XM_006712718.1:c.*461del | XP_006712781.1:n.*461del | |
| XM_017004783.2:c.*461del | XP_016860272.1:n.*461del | |
| XR_001738914.2:n.3609del | ||
| XR_001738915.2:n.3551del | ||
| NM_007315.4:c.*461del MANE Select | NP_009330.1:n.*461del | |
| NM_001384880.1:c.*461del | NP_001371809.1:n.*461del | |
| NM_001384881.1:c.*461del | NP_001371810.1:n.*461del | |
| NM_001384882.1:c.*461del | NP_001371811.1:n.*461del | |
| NM_001384883.1:c.*461del | NP_001371812.1:n.*461del | |
| NM_001384884.1:c.*461del | NP_001371813.1:n.*461del | |
| NM_001384885.1:c.*461del | NP_001371814.1:n.*461del | |
| NM_001384886.1:c.*461del | NP_001371815.1:n.*461del | |
| NM_001384887.1:c.*461del | NP_001371816.1:n.*461del | |
| NM_001384888.1:c.*461del | NP_001371817.1:n.*461del | |
| NM_001384889.1:c.*461del | NP_001371818.1:n.*461del | |
| NM_001384890.1:c.*461del | NP_001371819.1:n.*461del | |
| NM_001384891.1:c.*461del | NP_001371820.1:n.*461del |