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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43084393_43084394delinsTG , CM000679.2:g.43084393_43084394delinsTG | GRCh38 |
| NC_000017.10:g.41236410_41236411delinsTG , CM000679.1:g.41236410_41236411delinsTG | GRCh37 |
| NC_000017.9:g.38489936_38489937delinsTG | NCBI36 |
| NG_005905.2:g.133590_133591delinsCA , LRG_292:g.133590_133591delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4186-1819_4186-1818delinsCA | ENSP00000417241.2:n.4186-1819_4186-1818de... | |
| ENST00000470026.6:c.4186-1819_4186-1818delinsCA | ENSP00000419274.2:n.4186-1819_4186-1818de... | |
| ENST00000473961.6:c.4060-1819_4060-1818delinsCA | ENSP00000420201.2:n.4060-1819_4060-1818de... | |
| ENST00000476777.6:c.4183-1822_4183-1821delinsCA | ENSP00000417554.2:n.4183-1822_4183-1821de... | |
| ENST00000477152.6:c.4108-1819_4108-1818delinsCA | ENSP00000419988.2:n.4108-1819_4108-1818de... | |
| ENST00000478531.6:c.874-1819_874-1818delinsCA | ENSP00000420412.2:n.874-1819_874-1818deli... | |
| ENST00000489037.2:c.4108-1819_4108-1818delinsCA | ENSP00000420781.2:n.4108-1819_4108-1818de... | |
| ENST00000493919.6:c.736-1819_736-1818delinsCA | ENSP00000418819.2:n.736-1819_736-1818deli... | |
| ENST00000494123.6:c.4186-1819_4186-1818delinsCA | ENSP00000419103.2:n.4186-1819_4186-1818de... | |
| ENST00000497488.2:c.3298-1819_3298-1818delinsCA | ENSP00000418986.2:n.3298-1819_3298-1818de... | |
| ENST00000618469.2:c.4186-1819_4186-1818delinsCA | ENSP00000478114.2:n.4186-1819_4186-1818de... | |
| ENST00000634433.2:c.4063-1819_4063-1818delinsCA | ENSP00000489431.2:n.4063-1819_4063-1818de... | |
| ENST00000644379.2:c.4186-1819_4186-1818delinsCA | ENSP00000496570.2:n.4186-1819_4186-1818de... | |
| ENST00000644555.2:c.736-1819_736-1818delinsCA | ENSP00000494614.2:n.736-1819_736-1818deli... | |
| ENST00000652672.2:c.4045-1819_4045-1818delinsCA | ENSP00000498906.2:n.4045-1819_4045-1818de... | |
| ENST00000484087.6:c.754-1822_754-1821delinsCA | ENSP00000419481.2:n.754-1822_754-1821deli... | |
| ENST00000700182.1:c.796-1819_796-1818delinsCA | ENSP00000514849.1:n.796-1819_796-1818deli... | |
| ENST00000357654.9:c.4186-1819_4186-1818delinsCA MANE Select | ENSP00000350283.3:n.4186-1819_4186-1818de... | |
| ENST00000471181.7:c.4186-1819_4186-1818delinsCA | ENSP00000418960.2:n.4186-1819_4186-1818de... | |
| ENST00000644379.1:c.507-1819_507-1818delinsCA | ||
| ENST00000352993.7:c.760-1819_760-1818delinsCA | ENSP00000312236.5:n.760-1819_760-1818deli... | |
| ENST00000357654.7:c.4186-1819_4186-1818delinsCA | ENSP00000350283.3:n.4186-1819_4186-1818de... | |
| ENST00000461221.5:c.*3969-1819_*3969-1818delinsCA | ENSP00000418548.1:n.*3969-1819_*3969-1818... | |
| ENST00000461574.1:c.480-1819_480-1818delinsCA | ||
| ENST00000468300.5:c.877-1819_877-1818delinsCA | ENSP00000417148.1:n.877-1819_877-1818deli... | |
| ENST00000471181.6:c.4186-1819_4186-1818delinsCA | ENSP00000418960.2:n.4186-1819_4186-1818de... | |
| ENST00000478531.5:c.874-1819_874-1818delinsCA | ENSP00000420412.1:n.874-1819_874-1818deli... | |
| ENST00000484087.5:c.499-1819_499-1818delinsCA | ENSP00000419481.1:n.499-1819_499-1818deli... | |
| ENST00000487825.5:c.502-1819_502-1818delinsCA | ENSP00000418212.1:n.502-1819_502-1818deli... | |
| ENST00000491747.6:c.877-1819_877-1818delinsCA | ENSP00000420705.2:n.877-1819_877-1818deli... | |
| ENST00000493795.5:c.4045-1819_4045-1818delinsCA | ENSP00000418775.1:n.4045-1819_4045-1818de... | |
| ENST00000493919.5:c.736-1819_736-1818delinsCA | ENSP00000418819.1:n.736-1819_736-1818deli... | |
| ENST00000586385.5:c.5-20443_5-20442delinsCA | ENSP00000465818.1:n.5-20443_5-20442delins... | |
| ENST00000591534.5:c.-43-9873_-43-9872delinsCA | ENSP00000467329.1:n.-43-9873_-43-9872deli... | |
| ENST00000591849.5:c.-98-34204_-98-34203delinsCA | ENSP00000465347.1:n.-98-34204_-98-34203de... | |
| NM_007294.3:c.4186-1819_4186-1818delinsCA , LRG_292t1:c.4186-1819_4186-1818delinsCA | NP_009225.1:n.4186-1819_4186-1818delinsCA... | |
| NM_007297.3:c.4045-1819_4045-1818delinsCA | NP_009228.2:n.4045-1819_4045-1818delinsCA... | |
| NM_007298.3:c.877-1819_877-1818delinsCA | NP_009229.2:n.877-1819_877-1818delinsCA | |
| NM_007299.3:c.877-1819_877-1818delinsCA | NP_009230.2:n.877-1819_877-1818delinsCA | |
| NM_007300.3:c.4186-1819_4186-1818delinsCA | NP_009231.2:n.4186-1819_4186-1818delinsCA... | |
| NR_027676.1:n.4322-1819_4322-1818delinsCA | ||
| NM_007294.4:c.4186-1819_4186-1818delinsCA MANE Select | NP_009225.1:n.4186-1819_4186-1818delinsCA... | |
| NM_007297.4:c.4045-1819_4045-1818delinsCA | NP_009228.2:n.4045-1819_4045-1818delinsCA... | |
| NM_007299.4:c.877-1819_877-1818delinsCA | NP_009230.2:n.877-1819_877-1818delinsCA | |
| NM_007300.4:c.4186-1819_4186-1818delinsCA | NP_009231.2:n.4186-1819_4186-1818delinsCA... | |
| NR_027676.2:n.4363-1819_4363-1818delinsCA |