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
dbSNP Id:
rs1955823861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.34275344_34275366dup , CM000672.2:g.34275344_34275366dup | GRCh38 |
| NC_000010.10:g.34564272_34564294dup , CM000672.1:g.34564272_34564294dup | GRCh37 |
| NC_000010.9:g.34604278_34604300dup | NCBI36 |
| NG_052602.1:g.544960_544982dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696673.1:c.3105-5467_3105-5445dup | ENSP00000512797.1:n.3105-5467_3105-5445du... | |
| ENST00000346874.9:c.3075-5467_3075-5445dup | ENSP00000340591.4:n.3075-5467_3075-5445du... | |
| ENST00000350537.9:c.3048-5467_3048-5445dup | ENSP00000311986.6:n.3048-5467_3048-5445du... | |
| ENST00000374788.8:c.3177-5467_3177-5445dup MANE Select | ENSP00000363920.3:n.3177-5467_3177-5445du... | |
| ENST00000374789.8:c.3186-5467_3186-5445dup | ENSP00000363921.3:n.3186-5467_3186-5445du... | |
| ENST00000374790.8:c.3006-5467_3006-5445dup | ENSP00000363922.3:n.3006-5467_3006-5445du... | |
| ENST00000374794.8:c.2850-5467_2850-5445dup | ENSP00000363926.3:n.2850-5467_2850-5445du... | |
| ENST00000346874.8:c.3075-5467_3075-5445dup | ENSP00000340591.4:n.3075-5467_3075-5445du... | |
| ENST00000350537.8:c.3048-5467_3048-5445dup | ENSP00000311986.6:n.3048-5467_3048-5445du... | |
| ENST00000374788.7:c.3177-5467_3177-5445dup | ENSP00000363920.3:n.3177-5467_3177-5445du... | |
| ENST00000374789.7:c.3186-5467_3186-5445dup | ENSP00000363921.3:n.3186-5467_3186-5445du... | |
| ENST00000374790.7:c.3006-5467_3006-5445dup | ENSP00000363922.3:n.3006-5467_3006-5445du... | |
| ENST00000374794.7:c.2850-5467_2850-5445dup | ENSP00000363926.3:n.2850-5467_2850-5445du... | |
| ENST00000466092.1:n.694-5467_694-5445dup | ||
| ENST00000545260.5:c.2916-5467_2916-5445dup | ENSP00000440857.1:n.2916-5467_2916-5445du... | |
| ENST00000545693.5:c.3138-5467_3138-5445dup | ENSP00000443147.1:n.3138-5467_3138-5445du... | |
| NM_001184785.1:c.3177-5467_3177-5445dup | NP_001171714.1:n.3177-5467_3177-5445dup | |
| NM_001184786.1:c.3138-5467_3138-5445dup | NP_001171715.1:n.3138-5467_3138-5445dup | |
| NM_001184787.1:c.3075-5467_3075-5445dup | NP_001171716.1:n.3075-5467_3075-5445dup | |
| NM_001184788.1:c.3048-5467_3048-5445dup | NP_001171717.1:n.3048-5467_3048-5445dup | |
| NM_001184789.1:c.2937-5467_2937-5445dup | NP_001171718.1:n.2937-5467_2937-5445dup | |
| NM_001184790.1:c.2916-5467_2916-5445dup | NP_001171719.1:n.2916-5467_2916-5445dup | |
| NM_001184791.1:c.2850-5467_2850-5445dup | NP_001171720.1:n.2850-5467_2850-5445dup | |
| NM_019619.3:c.3186-5467_3186-5445dup | NP_062565.2:n.3186-5467_3186-5445dup | |
| XM_005252528.3:c.3174-5467_3174-5445dup | XP_005252585.1:n.3174-5467_3174-5445dup | |
| XM_005252530.3:c.3132-5467_3132-5445dup | XP_005252587.1:n.3132-5467_3132-5445dup | |
| XM_005252531.3:c.3087-5467_3087-5445dup | XP_005252588.1:n.3087-5467_3087-5445dup | |
| XM_005252532.3:c.3045-5467_3045-5445dup | XP_005252589.1:n.3045-5467_3045-5445dup | |
| XM_011519569.1:c.3183-5467_3183-5445dup | XP_011517871.1:n.3183-5467_3183-5445dup | |
| XM_011519570.1:c.3147-5467_3147-5445dup | XP_011517872.1:n.3147-5467_3147-5445dup | |
| XM_011519571.1:c.3141-5467_3141-5445dup | XP_011517873.1:n.3141-5467_3141-5445dup | |
| XM_011519572.1:c.3138-5467_3138-5445dup | XP_011517874.1:n.3138-5467_3138-5445dup | |
| XM_011519573.1:c.3096-5467_3096-5445dup | XP_011517875.1:n.3096-5467_3096-5445dup | |
| XM_011519574.1:c.3090-5467_3090-5445dup | XP_011517876.1:n.3090-5467_3090-5445dup | |
| XM_011519575.1:c.3084-5467_3084-5445dup | XP_011517877.1:n.3084-5467_3084-5445dup | |
| XM_011519576.1:c.3054-5467_3054-5445dup | XP_011517878.1:n.3054-5467_3054-5445dup | |
| XM_011519577.1:c.3018-5467_3018-5445dup | XP_011517879.1:n.3018-5467_3018-5445dup | |
| XM_011519578.1:c.3012-5467_3012-5445dup | XP_011517880.1:n.3012-5467_3012-5445dup | |
| XM_011519579.1:c.2952-5467_2952-5445dup | XP_011517881.1:n.2952-5467_2952-5445dup | |
| XM_011519580.1:c.3074+41741_3074+41763dup | XP_011517882.1:n.3074+41741_3074+41763dup... | |
| XM_011519581.1:c.3186-5467_3186-5445dup | XP_011517883.1:n.3186-5467_3186-5445dup | |
| XM_011519582.1:c.2376-5467_2376-5445dup | XP_011517884.1:n.2376-5467_2376-5445dup | |
| NM_001184785.2:c.3177-5467_3177-5445dup MANE Select | NP_001171714.1:n.3177-5467_3177-5445dup | |
| NM_001184787.2:c.3075-5467_3075-5445dup | NP_001171716.1:n.3075-5467_3075-5445dup | |
| NM_001184788.2:c.3048-5467_3048-5445dup | NP_001171717.1:n.3048-5467_3048-5445dup | |
| NM_001184789.2:c.2937-5467_2937-5445dup | NP_001171718.1:n.2937-5467_2937-5445dup | |
| NM_001184791.2:c.2850-5467_2850-5445dup | NP_001171720.1:n.2850-5467_2850-5445dup | |
| NM_019619.4:c.3186-5467_3186-5445dup | NP_062565.2:n.3186-5467_3186-5445dup | |
| NM_001184786.2:c.3138-5467_3138-5445dup | NP_001171715.1:n.3138-5467_3138-5445dup | |
| NM_001184790.2:c.2916-5467_2916-5445dup | NP_001171719.1:n.2916-5467_2916-5445dup |