Linked Data
dbSNP Id:
rs1343099233
gnomAD v3:
11-61955732-CTGGTCGTGACCCGCTGG-C
gnomAD v4:
11-61955732-CTGGTCGTGACCCGCTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61955736_61955752del , CM000673.2:g.61955736_61955752del | GRCh38 |
| NC_000011.9:g.61723208_61723224del , CM000673.1:g.61723208_61723224del | GRCh37 |
| NC_000011.8:g.61479784_61479800del | NCBI36 |
| NG_009033.1:g.10853_10869del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.266_282del MANE Select | ENSP00000367282.4:p.Val89GlufsTer? | |
| ENST00000378043.8:c.266_282del | ENSP00000367282.4:p.Val89GlufsTer? | |
| ENST00000449131.6:c.86_102del | ENSP00000399709.2:p.Val29GlufsTer? | |
| ENST00000524877.5:n.698_714del | ||
| ENST00000524926.5:c.266_282del | ENSP00000432681.1:p.Val89GlufsTer? | |
| ENST00000526988.1:c.-53_-37del | ENSP00000433195.1:n.-53_-37del | |
| ENST00000529265.5:n.189_205del | ||
| ENST00000533521.5:n.890_906del | ||
| ENST00000534553.5:c.-53_-37del | ENSP00000431189.1:n.-53_-37del | |
| NM_001139443.1:c.86_102del | NP_001132915.1:p.Val29GlufsTer? | |
| NM_001300786.1:c.86_102del | NP_001287715.1:p.Val29GlufsTer? | |
| NM_001300787.1:c.86_102del | NP_001287716.1:p.Val29GlufsTer? | |
| NM_004183.3:c.266_282del | NP_004174.1:p.Val89GlufsTer? | |
| XM_005274210.2:c.266_282del | XP_005274267.1:p.Val89GlufsTer? | |
| XM_005274215.2:c.-53_-37del | XP_005274272.1:n.-53_-37del | |
| XM_005274216.2:c.86_102del | XP_005274273.1:p.Val29GlufsTer? | |
| XM_005274218.3:c.-53_-37del | XP_005274275.1:n.-53_-37del | |
| XM_005274219.2:c.266_282del | XP_005274276.1:p.Val89GlufsTer? | |
| XM_005274221.2:c.266_282del | XP_005274278.1:p.Val89GlufsTer? | |
| XM_011545229.1:c.266_282del | XP_011543531.1:p.Val89GlufsTer? | |
| XM_011545230.1:c.173_189del | XP_011543532.1:p.Val58GlufsTer? | |
| XM_011545231.1:c.-53_-37del | XP_011543533.1:n.-53_-37del | |
| XM_011545232.1:c.266_282del | XP_011543534.1:p.Val89GlufsTer? | |
| NM_001363591.1:c.-53_-37del | NP_001350520.1:n.-53_-37del | |
| NM_001363592.1:c.266_282del | NP_001350521.1:p.Val89GlufsTer? | |
| NM_001363593.1:c.-910_-894del | NP_001350522.1:n.-910_-894del | |
| NR_134580.1:n.846_862del | ||
| XM_005274210.4:c.266_282del | XP_005274267.1:p.Val89GlufsTer? | |
| XM_005274215.4:c.-53_-37del | XP_005274272.1:n.-53_-37del | |
| XM_005274216.4:c.86_102del | XP_005274273.1:p.Val29GlufsTer? | |
| XM_005274219.4:c.266_282del | XP_005274276.1:p.Val89GlufsTer? | |
| XM_005274221.4:c.266_282del | XP_005274278.1:p.Val89GlufsTer? | |
| XM_011545229.3:c.266_282del | XP_011543531.1:p.Val89GlufsTer? | |
| XM_011545230.3:c.173_189del | XP_011543532.1:p.Val58GlufsTer? | |
| XM_017018230.2:c.-53_-37del | XP_016873719.1:n.-53_-37del | |
| XR_001747952.2:n.764_780del | ||
| XR_001747953.2:n.956_972del | ||
| XR_001747954.2:n.956_972del | ||
| XR_002957249.1:n.1989_2005del | ||
| NM_004183.4:c.266_282del MANE Select | NP_004174.1:p.Val89GlufsTer? | |
| NM_001139443.2:c.86_102del | NP_001132915.1:p.Val29GlufsTer? | |
| NM_001300786.2:c.86_102del | NP_001287715.1:p.Val29GlufsTer? | |
| NM_001300787.2:c.86_102del | NP_001287716.1:p.Val29GlufsTer? | |
| NM_001363591.2:c.-53_-37del | NP_001350520.1:n.-53_-37del | |
| NM_001363593.2:c.-910_-894del | NP_001350522.1:n.-910_-894del | |
| NR_134580.2:n.379_395del |