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
COSMIC:
COSM1135939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091605_43091606delinsAG , CM000679.2:g.43091605_43091606delinsAG | GRCh38 |
| NC_000017.10:g.41243622_41243623delinsAG , CM000679.1:g.41243622_41243623delinsAG | GRCh37 |
| NC_000017.9:g.38497148_38497149delinsAG | NCBI36 |
| NG_005905.2:g.126378_126379delinsCT , LRG_292:g.126378_126379delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3989_3990delinsCT | ||
| ENST00000461574.2:c.3925_3926delinsCT | ENSP00000417241.2:p.Asn1309Leu | |
| ENST00000470026.6:c.3925_3926delinsCT | ENSP00000419274.2:p.Asn1309Leu | |
| ENST00000473961.6:c.3799_3800delinsCT | ENSP00000420201.2:p.Asn1267Leu | |
| ENST00000476777.6:c.3922_3923delinsCT | ENSP00000417554.2:p.Asn1308Leu | |
| ENST00000477152.6:c.3847_3848delinsCT | ENSP00000419988.2:p.Asn1283Leu | |
| ENST00000478531.6:c.785-574_785-573delinsCT | ENSP00000420412.2:n.785-574_785-573delins... | |
| ENST00000489037.2:c.3847_3848delinsCT | ENSP00000420781.2:p.Asn1283Leu | |
| ENST00000493919.6:c.647-574_647-573delinsCT | ENSP00000418819.2:n.647-574_647-573delins... | |
| ENST00000494123.6:c.3925_3926delinsCT | ENSP00000419103.2:p.Asn1309Leu | |
| ENST00000497488.2:c.3037_3038delinsCT | ENSP00000418986.2:p.Asn1013Leu | |
| ENST00000618469.2:c.3925_3926delinsCT | ENSP00000478114.2:p.Asn1309Leu | |
| ENST00000634433.2:c.3802_3803delinsCT | ENSP00000489431.2:p.Asn1268Leu | |
| ENST00000644379.2:c.3925_3926delinsCT | ENSP00000496570.2:p.Asn1309Leu | |
| ENST00000644555.2:c.647-574_647-573delinsCT | ENSP00000494614.2:n.647-574_647-573delins... | |
| ENST00000652672.2:c.3784_3785delinsCT | ENSP00000498906.2:p.Asn1262Leu | |
| ENST00000484087.6:c.665-574_665-573delinsCT | ENSP00000419481.2:n.665-574_665-573delins... | |
| ENST00000700182.1:c.707-574_707-573delinsCT | ENSP00000514849.1:n.707-574_707-573delins... | |
| ENST00000357654.9:c.3925_3926delinsCT MANE Select | ENSP00000350283.3:p.Asn1309Leu | |
| ENST00000471181.7:c.3925_3926delinsCT | ENSP00000418960.2:p.Asn1309Leu | |
| ENST00000644379.1:c.246_247delinsCT | ||
| ENST00000352993.7:c.671-574_671-573delinsCT | ENSP00000312236.5:n.671-574_671-573delins... | |
| ENST00000354071.7:c.3925_3926delinsCT | ENSP00000326002.7:p.Asn1309Leu | |
| ENST00000357654.7:c.3925_3926delinsCT | ENSP00000350283.3:p.Asn1309Leu | |
| ENST00000461221.5:c.*3708_*3709delinsCT | ENSP00000418548.1:n.*3708_*3709delinsCT | |
| ENST00000461574.1:c.219_220delinsCT | ||
| ENST00000468300.5:c.788-574_788-573delinsCT | ENSP00000417148.1:n.788-574_788-573delins... | |
| ENST00000471181.6:c.3925_3926delinsCT | ENSP00000418960.2:p.Asn1309Leu | |
| ENST00000478531.5:c.785-574_785-573delinsCT | ENSP00000420412.1:n.785-574_785-573delins... | |
| ENST00000484087.5:c.410-574_410-573delinsCT | ENSP00000419481.1:n.410-574_410-573delins... | |
| ENST00000487825.5:c.413-574_413-573delinsCT | ENSP00000418212.1:n.413-574_413-573delins... | |
| ENST00000491747.6:c.788-574_788-573delinsCT | ENSP00000420705.2:n.788-574_788-573delins... | |
| ENST00000493795.5:c.3784_3785delinsCT | ENSP00000418775.1:p.Asn1262Leu | |
| ENST00000493919.5:c.647-574_647-573delinsCT | ENSP00000418819.1:n.647-574_647-573delins... | |
| ENST00000586385.5:c.5-27655_5-27654delinsCT | ENSP00000465818.1:n.5-27655_5-27654delins... | |
| ENST00000591534.5:c.-43-17085_-43-17084delinsCT | ENSP00000467329.1:n.-43-17085_-43-17084de... | |
| ENST00000591849.5:c.-99+33665_-99+33666delinsCT | ENSP00000465347.1:n.-99+33665_-99+33666de... | |
| NM_007294.3:c.3925_3926delinsCT , LRG_292t1:c.3925_3926delinsCT | NP_009225.1:p.Asn1309Leu | |
| NM_007297.3:c.3784_3785delinsCT | NP_009228.2:p.Asn1262Leu | |
| NM_007298.3:c.788-574_788-573delinsCT | NP_009229.2:n.788-574_788-573delinsCT | |
| NM_007299.3:c.788-574_788-573delinsCT | NP_009230.2:n.788-574_788-573delinsCT | |
| NM_007300.3:c.3925_3926delinsCT | NP_009231.2:p.Asn1309Leu | |
| NR_027676.1:n.4061_4062delinsCT | ||
| NM_007294.4:c.3925_3926delinsCT MANE Select | NP_009225.1:p.Asn1309Leu | |
| NM_007297.4:c.3784_3785delinsCT | NP_009228.2:p.Asn1262Leu | |
| NM_007299.4:c.788-574_788-573delinsCT | NP_009230.2:n.788-574_788-573delinsCT | |
| NM_007300.4:c.3925_3926delinsCT | NP_009231.2:p.Asn1309Leu | |
| NR_027676.2:n.4102_4103delinsCT |