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
ClinVar Variation Id:
226109
ClinVar RCV Id:
RCV000211490
dbSNP Id:
rs875989877
ExAC:
1:76227049 C / CT
gnomAD v2:
1-76227049-C-CT
gnomAD v4:
1-75761364-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761365dup , CM000663.2:g.75761365dup | GRCh38 |
| NC_000001.10:g.76227050dup , CM000663.1:g.76227050dup | GRCh37 |
| NC_000001.9:g.75999638dup | NCBI36 |
| NG_007045.2:g.42008dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1189dup MANE Select | ENSP00000359878.5:p.Tyr397LeufsTer5 | |
| ENST00000473018.3:n.3313dup | ||
| ENST00000532207.6:n.2200dup | ||
| ENST00000541113.6:c.1093dup | ENSP00000442324.2:p.Tyr365LeufsTer5 | |
| ENST00000679509.1:n.2151dup | ||
| ENST00000679530.1:c.*957dup | ENSP00000506454.1:n.*957dup | |
| ENST00000679615.1:n.3204dup | ||
| ENST00000679687.1:c.751dup | ENSP00000506598.1:p.Tyr251LeufsTer5 | |
| ENST00000679704.1:c.*955dup | ENSP00000505117.1:n.*955dup | |
| ENST00000679709.1:c.*1152dup | ENSP00000506623.1:n.*1152dup | |
| ENST00000679976.1:c.*773dup | ENSP00000505565.1:n.*773dup | |
| ENST00000680166.1:n.4478dup | ||
| ENST00000680315.1:n.1072dup | ||
| ENST00000680517.1:c.*577dup | ENSP00000505803.1:n.*577dup | |
| ENST00000680582.1:n.2151dup | ||
| ENST00000680613.1:c.*682dup | ENSP00000506114.1:n.*682dup | |
| ENST00000680662.1:c.*1103dup | ENSP00000505080.1:n.*1103dup | |
| ENST00000680691.1:c.*852dup | ENSP00000506487.1:n.*852dup | |
| ENST00000680694.1:c.*777dup | ENSP00000505658.1:n.*777dup | |
| ENST00000680743.1:c.*978dup | ENSP00000505073.1:n.*978dup | |
| ENST00000680749.1:c.*474dup | ENSP00000505122.1:n.*474dup | |
| ENST00000680798.1:c.*664dup | ENSP00000505670.1:n.*664dup | |
| ENST00000680805.1:c.1048dup | ENSP00000505447.1:p.Tyr350LeufsTer5 | |
| ENST00000680844.1:c.*973dup | ENSP00000506541.1:n.*973dup | |
| ENST00000680948.1:c.*1056dup | ENSP00000505441.1:n.*1056dup | |
| ENST00000680964.1:c.*282dup | ENSP00000505961.1:n.*282dup | |
| ENST00000681037.1:c.*2673dup | ENSP00000506025.1:n.*2673dup | |
| ENST00000681063.1:c.*458dup | ENSP00000506616.1:n.*458dup | |
| ENST00000681209.1:c.*844dup | ENSP00000505877.1:n.*844dup | |
| ENST00000681278.1:n.1891dup | ||
| ENST00000681289.1:n.5184dup | ||
| ENST00000681361.1:c.*856dup | ENSP00000506679.1:n.*856dup | |
| ENST00000681430.1:c.*282dup | ENSP00000506301.1:n.*282dup | |
| ENST00000681446.1:c.*893dup | ENSP00000506244.1:n.*893dup | |
| ENST00000681450.1:c.*860dup | ENSP00000505660.1:n.*860dup | |
| ENST00000681548.1:c.*775dup | ENSP00000505275.1:n.*775dup | |
| ENST00000681616.1:c.*848dup | ENSP00000505111.1:n.*848dup | |
| ENST00000681621.1:c.*773dup | ENSP00000505770.1:n.*773dup | |
| ENST00000681680.1:n.3284dup | ||
| ENST00000681720.1:c.*644dup | ENSP00000505438.1:n.*644dup | |
| ENST00000681730.1:n.1411dup | ||
| ENST00000681790.1:c.931dup | ENSP00000505130.1:p.Tyr311LeufsTer5 | |
| ENST00000681837.1:n.1805dup | ||
| ENST00000681913.1:n.3435dup | ||
| ENST00000681916.1:c.*957dup | ENSP00000506477.1:n.*957dup | |
| ENST00000681930.1:n.3313dup | ||
| ENST00000370834.9:c.1288dup | ENSP00000359871.5:p.Tyr430LeufsTer5 | |
| ENST00000370841.8:c.1189dup | ENSP00000359878.4:p.Tyr397LeufsTer5 | |
| ENST00000420607.6:c.1201dup | ENSP00000409612.2:p.Tyr401LeufsTer5 | |
| ENST00000481374.1:n.462dup | ||
| ENST00000525808.5:c.*775dup | ENSP00000434823.1:n.*775dup | |
| ENST00000526129.5:c.*973dup | ENSP00000434092.1:n.*973dup | |
| ENST00000526196.5:c.*957dup | ENSP00000431953.1:n.*957dup | |
| ENST00000528016.1:c.160-7812dup | ENSP00000434284.1:n.160-7812dup | |
| ENST00000529059.5:n.1098dup | ||
| ENST00000541113.5:c.1081dup | ENSP00000442324.1:p.Tyr361LeufsTer5 | |
| NM_000016.5:c.1189dup | NP_000007.1:p.Tyr397LeufsTer5 | |
| NM_001127328.2:c.1201dup | NP_001120800.1:p.Tyr401LeufsTer5 | |
| NM_001286042.1:c.1081dup | NP_001272971.1:p.Tyr361LeufsTer5 | |
| NM_001286043.1:c.1288dup | NP_001272972.1:p.Tyr430LeufsTer5 | |
| NM_001286044.1:c.622dup | NP_001272973.1:p.Tyr208LeufsTer5 | |
| NM_000016.6:c.1189dup MANE Select | NP_000007.1:p.Tyr397LeufsTer5 | |
| NM_001127328.3:c.1201dup | NP_001120800.1:p.Tyr401LeufsTer5 | |
| NM_001286042.2:c.1081dup | NP_001272971.1:p.Tyr361LeufsTer5 | |
| NM_001286043.2:c.1288dup | NP_001272972.1:p.Tyr430LeufsTer5 | |
| NM_001286044.2:c.622dup | NP_001272973.1:p.Tyr208LeufsTer5 |