Linked Data
ClinVar Variation Id:
555501
dbSNP Id:
rs1555449316
MyVariant Identifiers:
chr16:g.8806404_8806406del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806404_8806406del , CM000678.2:g.8806404_8806406del | GRCh38 |
| NC_000016.9:g.8900261_8900263del , CM000678.1:g.8900261_8900263del | GRCh37 |
| NC_000016.8:g.8807762_8807764del | NCBI36 |
| NG_009209.1:g.13592_13594del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.344_346del | ENSP00000507849.1:p.Lys115del | |
| ENST00000682393.1:c.178+4494_178+4496del | ENSP00000506774.1:n.178+4494_178+4496del | |
| ENST00000683094.1:c.*66_*68del | ENSP00000508230.1:n.*66_*68del | |
| ENST00000683274.1:c.344_346del | ENSP00000507262.1:p.Lys115del | |
| ENST00000683435.1:c.*340_*342del | ENSP00000508092.1:n.*340_*342del | |
| ENST00000268261.9:c.344_346del MANE Select | ENSP00000268261.4:p.Lys115del | |
| ENST00000268261.8:c.344_346del | ENSP00000268261.4:p.Lys115del | |
| ENST00000562318.5:c.*66_*68del | ENSP00000454395.1:n.*66_*68del | |
| ENST00000562448.1:n.308_310del | ||
| ENST00000564030.5:n.406_408del | ||
| ENST00000564069.1:c.315_317del | ||
| ENST00000565221.5:c.178+4494_178+4496del | ENSP00000457932.1:n.178+4494_178+4496del | |
| ENST00000565896.5:c.*145+4015_*145+4017del | ENSP00000456024.1:n.*145+4015_*145+4017del | |
| ENST00000566540.5:c.*66_*68del | ENSP00000454284.1:n.*66_*68del | |
| ENST00000566604.5:c.344_346del | ENSP00000456774.1:p.Lys115del | |
| ENST00000566983.5:c.263_265del | ENSP00000457956.1:p.Lys88del | |
| ENST00000568602.5:c.*197_*199del | ENSP00000455066.1:n.*197_*199del | |
| ENST00000569958.5:c.178+4494_178+4496del | ENSP00000456302.1:n.178+4494_178+4496del | |
| ENST00000570076.5:c.178+4494_178+4496del | ENSP00000456961.1:n.178+4494_178+4496del | |
| ENST00000570134.5:c.*66_*68del | ENSP00000456275.1:n.*66_*68del | |
| NM_000303.2:c.344_346del | NP_000294.1:p.Lys115del | |
| XM_005255372.3:c.344_346del | XP_005255429.1:p.Lys115del | |
| XM_005255373.3:c.95_97del | XP_005255430.1:p.Lys32del | |
| XM_005255374.3:c.95_97del | XP_005255431.1:p.Lys32del | |
| XM_011522538.1:c.344_346del | XP_011520840.1:p.Lys115del | |
| XM_011522539.1:c.-29+4494_-29+4496del | XP_011520841.1:n.-29+4494_-29+4496del | |
| XM_005255374.4:c.95_97del | XP_005255431.1:p.Lys32del | |
| NM_000303.3:c.344_346del MANE Select | NP_000294.1:p.Lys115del |