Linked Data
ClinVar Variation Id:
54993
ClinVar RCV Id:
RCV000257647
dbSNP Id:
rs397509101
PubMed:
PMID:17688236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43104187_43104188insA , CM000679.2:g.43104187_43104188insA | GRCh38 |
| NC_000017.10:g.41256204_41256205insA , CM000679.1:g.41256204_41256205insA | GRCh37 |
| NC_000017.9:g.38509730_38509731insA | NCBI36 |
| NG_005905.2:g.113796_113797insT , LRG_292:g.113796_113797insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.439_440insT | ||
| ENST00000461574.2:c.375_376insT | ENSP00000417241.2:p.Gln126SerfsTer16 | |
| ENST00000470026.6:c.375_376insT | ENSP00000419274.2:p.Gln126SerfsTer16 | |
| ENST00000473961.6:c.375_376insT | ENSP00000420201.2:p.Gln126SerfsTer16 | |
| ENST00000476777.6:c.375_376insT | ENSP00000417554.2:p.Gln126SerfsTer16 | |
| ENST00000477152.6:c.297_298insT | ENSP00000419988.2:p.Gln100SerfsTer16 | |
| ENST00000478531.6:c.375_376insT | ENSP00000420412.2:p.Gln126SerfsTer16 | |
| ENST00000489037.2:c.297_298insT | ENSP00000420781.2:p.Gln100SerfsTer16 | |
| ENST00000493919.6:c.234_235insT | ENSP00000418819.2:p.Gln79SerfsTer16 | |
| ENST00000494123.6:c.375_376insT | ENSP00000419103.2:p.Gln126SerfsTer16 | |
| ENST00000497488.2:c.-218-9328_-218-9327insT | ENSP00000418986.2:n.-218-9328_-218-9327in... | |
| ENST00000618469.2:c.375_376insT | ENSP00000478114.2:p.Gln126SerfsTer16 | |
| ENST00000634433.2:c.375_376insT | ENSP00000489431.2:p.Gln126SerfsTer16 | |
| ENST00000644379.2:c.375_376insT | ENSP00000496570.2:p.Gln126SerfsTer16 | |
| ENST00000644555.2:c.234_235insT | ENSP00000494614.2:p.Gln79SerfsTer16 | |
| ENST00000652672.2:c.234_235insT | ENSP00000498906.2:p.Gln79SerfsTer16 | |
| ENST00000484087.6:c.375_376insT | ENSP00000419481.2:p.Gln126SerfsTer16 | |
| ENST00000700182.1:c.297_298insT | ENSP00000514849.1:p.Gln100SerfsTer16 | |
| ENST00000700183.1:c.*289_*290insT | ENSP00000514850.1:n.*289_*290insT | |
| ENST00000700184.1:n.618_619insT | ||
| ENST00000357654.9:c.375_376insT MANE Select | ENSP00000350283.3:p.Gln126SerfsTer16 | |
| ENST00000471181.7:c.375_376insT | ENSP00000418960.2:p.Gln126SerfsTer16 | |
| ENST00000642945.1:c.*249_*250insT | ENSP00000495897.1:n.*249_*250insT | |
| ENST00000652672.1:c.234_235insT | ENSP00000498906.1:p.Gln79SerfsTer16 | |
| ENST00000352993.7:c.375_376insT | ENSP00000312236.5:p.Gln126SerfsTer16 | |
| ENST00000354071.7:c.375_376insT | ENSP00000326002.7:p.Gln126SerfsTer16 | |
| ENST00000357654.7:c.375_376insT | ENSP00000350283.3:p.Gln126SerfsTer16 | |
| ENST00000461221.5:c.*161_*162insT | ENSP00000418548.1:n.*161_*162insT | |
| ENST00000461798.5:c.*161_*162insT | ENSP00000417988.1:n.*161_*162insT | |
| ENST00000468300.5:c.375_376insT | ENSP00000417148.1:p.Gln126SerfsTer16 | |
| ENST00000470026.5:c.375_376insT | ENSP00000419274.1:p.Gln126SerfsTer16 | |
| ENST00000471181.6:c.375_376insT | ENSP00000418960.2:p.Gln126SerfsTer16 | |
| ENST00000473961.5:c.98_99insT | ||
| ENST00000476777.5:c.375_376insT | ENSP00000417554.1:p.Gln126SerfsTer16 | |
| ENST00000477152.5:c.297_298insT | ENSP00000419988.1:p.Gln100SerfsTer16 | |
| ENST00000478531.5:c.375_376insT | ENSP00000420412.1:p.Gln126SerfsTer16 | |
| ENST00000484087.5:c.123_124insT | ENSP00000419481.1:p.Gln42SerfsTer16 | |
| ENST00000487825.5:c.123_124insT | ENSP00000418212.1:p.Gln42SerfsTer16 | |
| ENST00000491747.6:c.375_376insT | ENSP00000420705.2:p.Gln126SerfsTer16 | |
| ENST00000492859.5:c.*311_*312insT | ENSP00000420253.1:n.*311_*312insT | |
| ENST00000493795.5:c.234_235insT | ENSP00000418775.1:p.Gln79SerfsTer16 | |
| ENST00000493919.5:c.234_235insT | ENSP00000418819.1:p.Gln79SerfsTer16 | |
| ENST00000494123.5:c.375_376insT | ENSP00000419103.1:p.Gln126SerfsTer16 | |
| ENST00000497488.1:c.-218-9328_-218-9327insT | ENSP00000418986.1:n.-218-9328_-218-9327in... | |
| ENST00000586385.5:c.4+20994_4+20995insT | ENSP00000465818.1:n.4+20994_4+20995insT | |
| ENST00000591534.5:c.-44+21083_-44+21084insT | ENSP00000467329.1:n.-44+21083_-44+21084in... | |
| ENST00000591849.5:c.-99+21083_-99+21084insT | ENSP00000465347.1:n.-99+21083_-99+21084in... | |
| ENST00000634433.1:c.375_376insT | ENSP00000489431.1:p.Gln126SerfsTer16 | |
| NM_007294.3:c.375_376insT , LRG_292t1:c.375_376insT | NP_009225.1:p.Gln126SerfsTer16 | |
| NM_007297.3:c.234_235insT | NP_009228.2:p.Gln79SerfsTer16 | |
| NM_007298.3:c.375_376insT | NP_009229.2:p.Gln126SerfsTer16 | |
| NM_007299.3:c.375_376insT | NP_009230.2:p.Gln126SerfsTer16 | |
| NM_007300.3:c.375_376insT | NP_009231.2:p.Gln126SerfsTer16 | |
| NR_027676.1:n.514_515insT | ||
| NM_007294.4:c.375_376insT MANE Select | NP_009225.1:p.Gln126SerfsTer16 | |
| NM_007297.4:c.234_235insT | NP_009228.2:p.Gln79SerfsTer16 | |
| NM_007299.4:c.375_376insT | NP_009230.2:p.Gln126SerfsTer16 | |
| NM_007300.4:c.375_376insT | NP_009231.2:p.Gln126SerfsTer16 | |
| NR_027676.2:n.555_556insT |