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
gnomAD v4:
1-75749314-GAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749315_75749316del , CM000663.2:g.75749315_75749316del | GRCh38 |
| NC_000001.10:g.76215000_76215001del , CM000663.1:g.76215000_76215001del | GRCh37 |
| NC_000001.9:g.75987588_75987589del | NCBI36 |
| NG_007045.2:g.29958_29959del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.709-104_709-103del MANE Select | ENSP00000359878.5:n.709-104_709-103del | |
| ENST00000473018.3:n.2833-104_2833-103del | ||
| ENST00000532207.6:n.1598-104_1598-103del | ||
| ENST00000541113.6:c.709-104_709-103del | ENSP00000442324.2:n.709-104_709-103del | |
| ENST00000679509.1:n.1671-104_1671-103del | ||
| ENST00000679530.1:c.*477-104_*477-103del | ENSP00000506454.1:n.*477-104_*477-103del | |
| ENST00000679615.1:n.2724-104_2724-103del | ||
| ENST00000679687.1:c.271-104_271-103del | ENSP00000506598.1:n.271-104_271-103del | |
| ENST00000679704.1:c.*475-104_*475-103del | ENSP00000505117.1:n.*475-104_*475-103del | |
| ENST00000679709.1:c.*672-104_*672-103del | ENSP00000506623.1:n.*672-104_*672-103del | |
| ENST00000679976.1:c.*293-104_*293-103del | ENSP00000505565.1:n.*293-104_*293-103del | |
| ENST00000680166.1:n.3998-104_3998-103del | ||
| ENST00000680517.1:c.*97-104_*97-103del | ENSP00000505803.1:n.*97-104_*97-103del | |
| ENST00000680582.1:n.1671-104_1671-103del | ||
| ENST00000680613.1:c.*80-104_*80-103del | ENSP00000506114.1:n.*80-104_*80-103del | |
| ENST00000680662.1:c.*623-104_*623-103del | ENSP00000505080.1:n.*623-104_*623-103del | |
| ENST00000680691.1:c.*372-104_*372-103del | ENSP00000506487.1:n.*372-104_*372-103del | |
| ENST00000680694.1:c.*297-104_*297-103del | ENSP00000505658.1:n.*297-104_*297-103del | |
| ENST00000680743.1:c.*376-104_*376-103del | ENSP00000505073.1:n.*376-104_*376-103del | |
| ENST00000680749.1:c.600-104_600-103del | ENSP00000505122.1:n.600-104_600-103del | |
| ENST00000680798.1:c.*184-104_*184-103del | ENSP00000505670.1:n.*184-104_*184-103del | |
| ENST00000680805.1:c.709-1136_709-1135del | ENSP00000505447.1:n.709-1136_709-1135del | |
| ENST00000680844.1:c.*493-104_*493-103del | ENSP00000506541.1:n.*493-104_*493-103del | |
| ENST00000680948.1:c.*576-104_*576-103del | ENSP00000505441.1:n.*576-104_*576-103del | |
| ENST00000680964.1:c.709-104_709-103del | ENSP00000505961.1:n.709-104_709-103del | |
| ENST00000681037.1:c.*2193-104_*2193-103del | ENSP00000506025.1:n.*2193-104_*2193-103del | |
| ENST00000681063.1:c.600-1136_600-1135del | ENSP00000506616.1:n.600-1136_600-1135del | |
| ENST00000681209.1:c.*364-104_*364-103del | ENSP00000505877.1:n.*364-104_*364-103del | |
| ENST00000681278.1:n.1066-104_1066-103del | ||
| ENST00000681289.1:n.4704-104_4704-103del | ||
| ENST00000681361.1:c.*376-104_*376-103del | ENSP00000506679.1:n.*376-104_*376-103del | |
| ENST00000681430.1:c.709-104_709-103del | ENSP00000506301.1:n.709-104_709-103del | |
| ENST00000681446.1:c.*291-104_*291-103del | ENSP00000506244.1:n.*291-104_*291-103del | |
| ENST00000681450.1:c.*380-104_*380-103del | ENSP00000505660.1:n.*380-104_*380-103del | |
| ENST00000681548.1:c.*295-104_*295-103del | ENSP00000505275.1:n.*295-104_*295-103del | |
| ENST00000681616.1:c.*368-104_*368-103del | ENSP00000505111.1:n.*368-104_*368-103del | |
| ENST00000681621.1:c.*293-104_*293-103del | ENSP00000505770.1:n.*293-104_*293-103del | |
| ENST00000681680.1:n.2804-104_2804-103del | ||
| ENST00000681720.1:c.*164-104_*164-103del | ENSP00000505438.1:n.*164-104_*164-103del | |
| ENST00000681730.1:n.931-104_931-103del | ||
| ENST00000681790.1:c.451-104_451-103del | ENSP00000505130.1:n.451-104_451-103del | |
| ENST00000681837.1:n.1325-104_1325-103del | ||
| ENST00000681913.1:n.2833-104_2833-103del | ||
| ENST00000681916.1:c.*477-104_*477-103del | ENSP00000506477.1:n.*477-104_*477-103del | |
| ENST00000681930.1:n.2833-104_2833-103del | ||
| ENST00000370834.9:c.808-104_808-103del | ENSP00000359871.5:n.808-104_808-103del | |
| ENST00000370841.8:c.709-104_709-103del | ENSP00000359878.4:n.709-104_709-103del | |
| ENST00000420607.6:c.721-104_721-103del | ENSP00000409612.2:n.721-104_721-103del | |
| ENST00000525808.5:c.*295-104_*295-103del | ENSP00000434823.1:n.*295-104_*295-103del | |
| ENST00000526129.5:c.*493-104_*493-103del | ENSP00000434092.1:n.*493-104_*493-103del | |
| ENST00000526196.5:c.*477-104_*477-103del | ENSP00000431953.1:n.*477-104_*477-103del | |
| ENST00000526930.1:n.482-104_482-103del | ||
| ENST00000529059.5:n.618-104_618-103del | ||
| ENST00000530953.6:c.*206-104_*206-103del | ENSP00000431372.1:n.*206-104_*206-103del | |
| ENST00000532207.5:n.439-104_439-103del | ||
| ENST00000532509.5:c.*473-104_*473-103del | ENSP00000432522.1:n.*473-104_*473-103del | |
| ENST00000534334.5:c.*293-104_*293-103del | ENSP00000435584.1:n.*293-104_*293-103del | |
| ENST00000541113.5:c.601-104_601-103del | ENSP00000442324.1:n.601-104_601-103del | |
| NM_000016.5:c.709-104_709-103del | NP_000007.1:n.709-104_709-103del | |
| NM_001127328.2:c.721-104_721-103del | NP_001120800.1:n.721-104_721-103del | |
| NM_001286042.1:c.601-104_601-103del | NP_001272971.1:n.601-104_601-103del | |
| NM_001286043.1:c.808-104_808-103del | NP_001272972.1:n.808-104_808-103del | |
| NM_001286044.1:c.142-104_142-103del | NP_001272973.1:n.142-104_142-103del | |
| NM_000016.6:c.709-104_709-103del MANE Select | NP_000007.1:n.709-104_709-103del | |
| NM_001127328.3:c.721-104_721-103del | NP_001120800.1:n.721-104_721-103del | |
| NM_001286042.2:c.601-104_601-103del | NP_001272971.1:n.601-104_601-103del | |
| NM_001286043.2:c.808-104_808-103del | NP_001272972.1:n.808-104_808-103del | |
| NM_001286044.2:c.142-104_142-103del | NP_001272973.1:n.142-104_142-103del |