Linked Data
ClinVar Variation Id:
859376
ClinVar RCV Id:
RCV001065471
dbSNP Id:
rs1167608831
gnomAD v2:
2-238245088-G-GGTGGTCACCGGCTTCGTC
gnomAD v3:
2-237336445-G-GGTGGTCACCGGCTTCGTC
gnomAD v4:
2-237336445-G-GGTGGTCACCGGCTTCGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336448_237336465dup , CM000664.2:g.237336448_237336465dup | GRCh38 |
| NC_000002.11:g.238245091_238245108dup , CM000664.1:g.238245091_238245108dup | GRCh37 |
| NC_000002.10:g.237909830_237909847dup | NCBI36 |
| NG_008676.1:g.82745_82762dup , LRG_473:g.82745_82762dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1282_1299dup | ||
| ENST00000353578.9:c.8019_8036dup | ENSP00000315873.4:p.Thr2679_Thr2680insThrLysProValThrThr | |
| ENST00000682957.1:c.764_781dup | ||
| ENST00000684508.1:n.904_921dup | ||
| ENST00000295550.9:c.8637_8654dup MANE Select | ENSP00000295550.4:p.Thr2885_Thr2886insThrLysProValThrThr | |
| ENST00000295550.8:c.8637_8654dup | ENSP00000295550.4:p.Thr2885_Thr2886insThrLysProValThrThr | |
| ENST00000347401.7:c.6813_6830dup | ENSP00000315609.4:p.Thr2277_Thr2278insThrLysProValThrThr | |
| ENST00000353578.8:c.8019_8036dup | ENSP00000315873.4:p.Thr2679_Thr2680insThrLysProValThrThr | |
| ENST00000409809.5:c.8019_8036dup | ENSP00000386844.1:p.Thr2679_Thr2680insThrLysProValThrThr | |
| ENST00000472056.5:c.6816_6833dup | ENSP00000418285.1:p.Thr2278_Thr2279insThrLysProValThrThr | |
| ENST00000491769.1:n.5079_5096dup | ||
| NM_004369.3:c.8637_8654dup , LRG_473t1:c.8637_8654dup | NP_004360.2:p.Thr2885_Thr2886insThrLysProValThrThr | |
| NM_057166.4:c.6816_6833dup | NP_476507.3:p.Thr2278_Thr2279insThrLysProValThrThr | |
| NM_057167.3:c.8019_8036dup | NP_476508.2:p.Thr2679_Thr2680insThrLysProValThrThr | |
| XM_005246065.1:c.8037_8054dup | XP_005246122.1:p.Thr2685_Thr2686insThrLysProValThrThr | |
| XM_005246066.1:c.7416_7433dup | XP_005246123.1:p.Thr2478_Thr2479insThrLysProValThrThr | |
| XM_006712253.1:c.8136_8153dup | XP_006712316.1:p.Thr2718_Thr2719insThrLysProValThrThr | |
| XM_011510574.1:c.8634_8651dup | XP_011508876.1:p.Thr2884_Thr2885insThrLysProValThrThr | |
| XM_011510575.1:c.6231_6248dup | XP_011508877.1:p.Thr2083_Thr2084insThrLysProValThrThr | |
| XM_017003304.1:c.6231_6248dup | XP_016858793.1:p.Thr2083_Thr2084insThrLysProValThrThr | |
| XM_024452684.1:c.7416_7433dup | XP_024308452.1:p.Thr2478_Thr2479insThrLysProValThrThr | |
| NM_004369.4:c.8637_8654dup MANE Select | NP_004360.2:p.Thr2885_Thr2886insThrLysProValThrThr | |
| NM_057166.5:c.6816_6833dup | NP_476507.3:p.Thr2278_Thr2279insThrLysProValThrThr | |
| NM_057167.4:c.8019_8036dup | NP_476508.2:p.Thr2679_Thr2680insThrLysProValThrThr |