UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
210195
dbSNP Id:
rs797045244
MyVariant Identifiers:
chr1:g.114445286_114445287delinsG (hg19)
chr1:g.113902664_113902665delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113902664_113902665delinsG , CM000663.2:g.113902664_113902665delinsG | GRCh38 |
| NC_000001.10:g.114445286_114445287delinsG , CM000663.1:g.114445286_114445287delinsG | GRCh37 |
| NC_000001.9:g.114246809_114246810delinsG | NCBI36 |
| NG_031901.1:g.7455_7456delinsC | |
| NG_057565.1:g.3046_3047delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369564.6:c.114-780_114-779delinsC | ENSP00000358577.2:n.114-780_114-779delins... | |
| ENST00000369567.6:c.113+1940_113+1941delinsC | ENSP00000358580.1:n.113+1940_113+1941deli... | |
| ENST00000369571.3:c.311_312delinsC | ENSP00000358584.3:p.Leu104ProfsTer? | |
| ENST00000432415.6:c.113+1940_113+1941delinsC | ENSP00000393622.2:n.113+1940_113+1941deli... | |
| ENST00000460653.2:c.311_312delinsC | ENSP00000518881.1:p.Leu104ProfsTer? | |
| ENST00000484201.6:c.114-780_114-779delinsC | ENSP00000518883.1:n.114-780_114-779delins... | |
| ENST00000489092.6:c.183_184delinsC | ENSP00000518884.1:p.Gly62AlafsTer? | |
| ENST00000489499.6:c.311_312delinsC | ENSP00000518882.1:p.Leu104ProfsTer? | |
| ENST00000713588.1:c.311_312delinsC | ENSP00000518880.1:p.Leu104ProfsTer? | |
| ENST00000713590.1:c.311_312delinsC | ENSP00000518886.1:p.Leu104ProfsTer? | |
| ENST00000369569.6:c.311_312delinsC MANE Select | ENSP00000358582.1:p.Leu104ProfsTer? | |
| ENST00000256658.8:c.311_312delinsC | ENSP00000256658.4:p.Leu104ProfsTer? | |
| ENST00000369564.5:c.114-780_114-779delinsC | ENSP00000358577.1:n.114-780_114-779delins... | |
| ENST00000369567.5:c.113+1940_113+1941delinsC | ENSP00000358580.1:n.113+1940_113+1941deli... | |
| ENST00000369569.5:c.311_312delinsC | ENSP00000358582.1:p.Leu104ProfsTer? | |
| ENST00000369571.2:c.311_312delinsC | ENSP00000358584.2:p.Leu104ProfsTer? | |
| ENST00000432415.5:c.113+1940_113+1941delinsC | ENSP00000393622.1:n.113+1940_113+1941deli... | |
| ENST00000484201.5:n.305-780_305-779delinsC | ||
| ENST00000489092.5:n.310_311delinsC | ||
| ENST00000489499.5:n.427_428delinsC | ||
| NM_001253852.1:c.311_312delinsC | NP_001240781.1:p.Leu104ProfsTer? | |
| NM_001253852.2:c.311_312delinsC | NP_001240781.1:p.Leu104ProfsTer? | |
| NM_001253853.1:c.14_15delinsC | NP_001240782.1:p.Leu5ProfsTer? | |
| NM_001253853.2:c.14_15delinsC | NP_001240782.1:p.Leu5ProfsTer? | |
| NM_001308312.1:c.113+1940_113+1941delinsC | NP_001295241.1:n.113+1940_113+1941delinsC... | |
| NM_006594.3:c.311_312delinsC | NP_006585.2:p.Leu104ProfsTer? | |
| NM_006594.4:c.311_312delinsC | NP_006585.2:p.Leu104ProfsTer? | |
| XM_005270381.2:c.311_312delinsC | XP_005270438.1:p.Leu104ProfsTer? | |
| XM_005270382.3:c.311_312delinsC | XP_005270439.1:p.Leu104ProfsTer? | |
| XM_011540523.1:c.114-780_114-779delinsC | XP_011538825.1:n.114-780_114-779delinsC | |
| XM_011540524.1:c.114-780_114-779delinsC | XP_011538826.1:n.114-780_114-779delinsC | |
| XM_011540525.1:c.311_312delinsC | XP_011538827.1:p.Leu104ProfsTer23 | |
| XM_011540527.1:c.-160_-159delinsC | XP_011538829.1:n.-160_-159delinsC | |
| XR_246227.1:n.493_494delinsC | ||
| XR_246228.2:n.493_494delinsC | ||
| XM_011540523.3:c.114-780_114-779delinsC | XP_011538825.1:n.114-780_114-779delinsC | |
| XM_011540525.3:c.311_312delinsC | XP_011538827.1:p.Leu104ProfsTer23 | |
| XM_017000089.2:c.311_312delinsC | XP_016855578.1:p.Leu104ProfsTer? | |
| XM_017000090.1:c.113+1940_113+1941delinsC | XP_016855579.1:n.113+1940_113+1941delinsC... | |
| XM_017000091.2:c.311_312delinsC | XP_016855580.1:p.Leu104ProfsTer23 | |
| XM_017000092.2:c.-934_-933delinsC | XP_016855581.1:n.-934_-933delinsC | |
| XM_017000093.2:c.311_312delinsC | XP_016855582.1:p.Leu104ProfsTer? | |
| XM_024452422.1:c.311_312delinsC | XP_024308190.1:p.Leu104ProfsTer23 | |
| XM_024452423.1:c.311_312delinsC | XP_024308191.1:p.Leu104ProfsTer? | |
| XM_024452435.1:c.114-780_114-779delinsC | XP_024308203.1:n.114-780_114-779delinsC | |
| XM_024452441.1:c.113+1940_113+1941delinsC | XP_024308209.1:n.113+1940_113+1941delinsC... | |
| XR_001736928.2:n.513_514delinsC | ||
| XR_001736930.2:n.513_514delinsC | ||
| XR_002958805.1:n.513_514delinsC | ||
| XR_002958806.1:n.513_514delinsC | ||
| XR_002958807.1:n.393_394delinsC | ||
| NM_001253852.3:c.311_312delinsC MANE Select | NP_001240781.1:p.Leu104ProfsTer? | |
| NM_001253853.3:c.14_15delinsC | NP_001240782.1:p.Leu5ProfsTer? | |
| NM_001308312.2:c.113+1940_113+1941delinsC | NP_001295241.1:n.113+1940_113+1941delinsC... | |
| NM_006594.5:c.311_312delinsC | NP_006585.2:p.Leu104ProfsTer? |