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:
rs1648133178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750383_75750384del , CM000663.2:g.75750383_75750384del | GRCh38 |
| NC_000001.10:g.76216068_76216069del , CM000663.1:g.76216068_76216069del | GRCh37 |
| NC_000001.9:g.75988656_75988657del | NCBI36 |
| NG_007045.2:g.31026_31027del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.850-68_850-67del MANE Select | ENSP00000359878.5:n.850-68_850-67del | |
| ENST00000473018.3:n.2974-68_2974-67del | ||
| ENST00000532207.6:n.1739-68_1739-67del | ||
| ENST00000541113.6:c.849+824_849+825del | ENSP00000442324.2:n.849+824_849+825del | |
| ENST00000679509.1:n.1812-68_1812-67del | ||
| ENST00000679530.1:c.*618-68_*618-67del | ENSP00000506454.1:n.*618-68_*618-67del | |
| ENST00000679615.1:n.2865-68_2865-67del | ||
| ENST00000679687.1:c.412-68_412-67del | ENSP00000506598.1:n.412-68_412-67del | |
| ENST00000679704.1:c.*616-68_*616-67del | ENSP00000505117.1:n.*616-68_*616-67del | |
| ENST00000679709.1:c.*813-68_*813-67del | ENSP00000506623.1:n.*813-68_*813-67del | |
| ENST00000679976.1:c.*434-68_*434-67del | ENSP00000505565.1:n.*434-68_*434-67del | |
| ENST00000680166.1:n.4139-68_4139-67del | ||
| ENST00000680315.1:n.665_666del | ||
| ENST00000680517.1:c.*238-68_*238-67del | ENSP00000505803.1:n.*238-68_*238-67del | |
| ENST00000680582.1:n.1812-68_1812-67del | ||
| ENST00000680613.1:c.*221-68_*221-67del | ENSP00000506114.1:n.*221-68_*221-67del | |
| ENST00000680662.1:c.*764-68_*764-67del | ENSP00000505080.1:n.*764-68_*764-67del | |
| ENST00000680691.1:c.*513-68_*513-67del | ENSP00000506487.1:n.*513-68_*513-67del | |
| ENST00000680694.1:c.*438-68_*438-67del | ENSP00000505658.1:n.*438-68_*438-67del | |
| ENST00000680743.1:c.*517-68_*517-67del | ENSP00000505073.1:n.*517-68_*517-67del | |
| ENST00000680749.1:c.*135-68_*135-67del | ENSP00000505122.1:n.*135-68_*135-67del | |
| ENST00000680798.1:c.*325-68_*325-67del | ENSP00000505670.1:n.*325-68_*325-67del | |
| ENST00000680805.1:c.709-68_709-67del | ENSP00000505447.1:n.709-68_709-67del | |
| ENST00000680844.1:c.*634-68_*634-67del | ENSP00000506541.1:n.*634-68_*634-67del | |
| ENST00000680948.1:c.*717-68_*717-67del | ENSP00000505441.1:n.*717-68_*717-67del | |
| ENST00000680964.1:c.850-68_850-67del | ENSP00000505961.1:n.850-68_850-67del | |
| ENST00000681037.1:c.*2334-68_*2334-67del | ENSP00000506025.1:n.*2334-68_*2334-67del | |
| ENST00000681063.1:c.600-68_600-67del | ENSP00000506616.1:n.600-68_600-67del | |
| ENST00000681209.1:c.*505-68_*505-67del | ENSP00000505877.1:n.*505-68_*505-67del | |
| ENST00000681278.1:n.1207-68_1207-67del | ||
| ENST00000681289.1:n.4845-68_4845-67del | ||
| ENST00000681361.1:c.*517-68_*517-67del | ENSP00000506679.1:n.*517-68_*517-67del | |
| ENST00000681430.1:c.850-68_850-67del | ENSP00000506301.1:n.850-68_850-67del | |
| ENST00000681446.1:c.*432-68_*432-67del | ENSP00000506244.1:n.*432-68_*432-67del | |
| ENST00000681450.1:c.*521-68_*521-67del | ENSP00000505660.1:n.*521-68_*521-67del | |
| ENST00000681548.1:c.*436-68_*436-67del | ENSP00000505275.1:n.*436-68_*436-67del | |
| ENST00000681616.1:c.*509-68_*509-67del | ENSP00000505111.1:n.*509-68_*509-67del | |
| ENST00000681621.1:c.*434-68_*434-67del | ENSP00000505770.1:n.*434-68_*434-67del | |
| ENST00000681680.1:n.2945-68_2945-67del | ||
| ENST00000681720.1:c.*305-68_*305-67del | ENSP00000505438.1:n.*305-68_*305-67del | |
| ENST00000681730.1:n.1072-68_1072-67del | ||
| ENST00000681790.1:c.592-68_592-67del | ENSP00000505130.1:n.592-68_592-67del | |
| ENST00000681837.1:n.1466-68_1466-67del | ||
| ENST00000681913.1:n.2974-68_2974-67del | ||
| ENST00000681916.1:c.*618-68_*618-67del | ENSP00000506477.1:n.*618-68_*618-67del | |
| ENST00000681930.1:n.2974-68_2974-67del | ||
| ENST00000370834.9:c.949-68_949-67del | ENSP00000359871.5:n.949-68_949-67del | |
| ENST00000370841.8:c.850-68_850-67del | ENSP00000359878.4:n.850-68_850-67del | |
| ENST00000420607.6:c.862-68_862-67del | ENSP00000409612.2:n.862-68_862-67del | |
| ENST00000525808.5:c.*436-68_*436-67del | ENSP00000434823.1:n.*436-68_*436-67del | |
| ENST00000526129.5:c.*634-68_*634-67del | ENSP00000434092.1:n.*634-68_*634-67del | |
| ENST00000526196.5:c.*618-68_*618-67del | ENSP00000431953.1:n.*618-68_*618-67del | |
| ENST00000528016.1:c.64-68_64-67del | ENSP00000434284.1:n.64-68_64-67del | |
| ENST00000529059.5:n.759-68_759-67del | ||
| ENST00000532207.5:n.580-68_580-67del | ||
| ENST00000534334.5:c.*434-68_*434-67del | ENSP00000435584.1:n.*434-68_*434-67del | |
| ENST00000541113.5:c.742-68_742-67del | ENSP00000442324.1:n.742-68_742-67del | |
| NM_000016.5:c.850-68_850-67del | NP_000007.1:n.850-68_850-67del | |
| NM_001127328.2:c.862-68_862-67del | NP_001120800.1:n.862-68_862-67del | |
| NM_001286042.1:c.742-68_742-67del | NP_001272971.1:n.742-68_742-67del | |
| NM_001286043.1:c.949-68_949-67del | NP_001272972.1:n.949-68_949-67del | |
| NM_001286044.1:c.283-68_283-67del | NP_001272973.1:n.283-68_283-67del | |
| NM_000016.6:c.850-68_850-67del MANE Select | NP_000007.1:n.850-68_850-67del | |
| NM_001127328.3:c.862-68_862-67del | NP_001120800.1:n.862-68_862-67del | |
| NM_001286042.2:c.742-68_742-67del | NP_001272971.1:n.742-68_742-67del | |
| NM_001286043.2:c.949-68_949-67del | NP_001272972.1:n.949-68_949-67del | |
| NM_001286044.2:c.283-68_283-67del | NP_001272973.1:n.283-68_283-67del |