Linked Data
ClinVar Variation Id:
143502
ClinVar RCV Id:
RCV000133033
dbSNP Id:
rs1557137871
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154032368_154032369insA , CM000685.2:g.154032368_154032369insA | GRCh38 |
| NC_000023.10:g.153297819_153297820insA , CM000685.1:g.153297819_153297820insA | GRCh37 |
| NC_000023.9:g.152951013_152951014insA | NCBI36 |
| NG_007107.2:g.109759_109760insT | |
| NG_007107.3:g.109735_109736insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.215_216insT MANE Plus Clinical | ENSP00000301948.6:p.Ala73GlyfsTer18 | |
| ENST00000453960.7:c.251_252insT MANE Select | ENSP00000395535.2:p.Ala85GlyfsTer18 | |
| ENST00000303391.10:c.215_216insT | ENSP00000301948.6:p.Ala73GlyfsTer18 | |
| ENST00000369957.5:c.*269_*270insT | ENSP00000358973.4:n.*269_*270insT | |
| ENST00000407218.5:c.251_252insT | ENSP00000384865.2:p.Ala85GlyfsTer18 | |
| ENST00000453960.6:c.251_252insT | ENSP00000395535.2:p.Ala85GlyfsTer18 | |
| ENST00000486506.5:n.2563_2564insT | ||
| ENST00000611468.1:c.203_204insT | ENSP00000479736.1:p.Ala69GlyfsTer18 | |
| ENST00000619732.4:c.215_216insT | ENSP00000480973.1:p.Ala73GlyfsTer18 | |
| ENST00000622433.4:c.203_204insT | ENSP00000484470.1:p.Ala69GlyfsTer18 | |
| ENST00000628176.2:c.215_216insT | ENSP00000486978.1:p.Ala73GlyfsTer18 | |
| NM_001110792.1:c.251_252insT | NP_001104262.1:p.Ala85GlyfsTer18 | |
| NM_001316337.1:c.-65_-64insT | NP_001303266.1:n.-65_-64insT | |
| NM_004992.3:c.215_216insT | NP_004983.1:p.Ala73GlyfsTer18 | |
| XM_005274681.3:c.215_216insT | XP_005274738.1:p.Ala73GlyfsTer18 | |
| XM_005274682.3:c.-65_-64insT | XP_005274739.1:n.-65_-64insT | |
| XM_005274683.3:c.-65_-64insT | XP_005274740.1:n.-65_-64insT | |
| XM_011531166.1:c.-65_-64insT | XP_011529468.1:n.-65_-64insT | |
| XM_006724819.3:c.-346_-345insT | XP_006724882.1:n.-346_-345insT | |
| XM_011531166.2:c.-65_-64insT | XP_011529468.1:n.-65_-64insT | |
| XM_024452383.1:c.-65_-64insT | XP_024308151.1:n.-65_-64insT | |
| XM_024452384.1:c.-65_-64insT | XP_024308152.1:n.-65_-64insT | |
| NM_001110792.2:c.251_252insT MANE Select | NP_001104262.1:p.Ala85GlyfsTer18 | |
| NM_001316337.2:c.-65_-64insT | NP_001303266.1:n.-65_-64insT | |
| NM_001369391.2:c.-65_-64insT | NP_001356320.1:n.-65_-64insT | |
| NM_001369392.2:c.-65_-64insT | NP_001356321.1:n.-65_-64insT | |
| NM_001369393.2:c.-65_-64insT | NP_001356322.1:n.-65_-64insT | |
| NM_001369394.1:c.-65_-64insT | NP_001356323.1:n.-65_-64insT | |
| NM_001369394.2:c.-65_-64insT | NP_001356323.1:n.-65_-64insT | |
| NM_001386137.1:c.-346_-345insT | NP_001373066.1:n.-346_-345insT | |
| NM_001386138.1:c.-346_-345insT | NP_001373067.1:n.-346_-345insT | |
| NM_001386139.1:c.-346_-345insT | NP_001373068.1:n.-346_-345insT | |
| NM_004992.4:c.215_216insT MANE Plus Clinical | NP_004983.1:p.Ala73GlyfsTer18 |