Linked Data
dbSNP Id:
rs60010171
gnomAD v2:
1-237580063-C-CAGAG
gnomAD v3:
1-237416763-C-CAGAG
gnomAD v4:
1-237416763-C-CAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237416781_237416784dup , CM000663.2:g.237416781_237416784dup | GRCh38 |
| NC_000001.10:g.237580081_237580084dup , CM000663.1:g.237580081_237580084dup | GRCh37 |
| NC_000001.9:g.235646704_235646707dup | NCBI36 |
| NG_008799.2:g.379380_379383dup | |
| NG_008799.3:g.379598_379601dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.774-268_774-265dup | ENSP00000499659.2:n.774-268_774-265dup | |
| ENST00000659194.3:c.774-268_774-265dup | ENSP00000499653.3:n.774-268_774-265dup | |
| ENST00000660292.2:c.774-268_774-265dup | ENSP00000499787.2:n.774-268_774-265dup | |
| ENST00000366574.7:c.774-268_774-265dup MANE Select | ENSP00000355533.2:n.774-268_774-265dup | |
| ENST00000360064.7:c.726-268_726-265dup | ENSP00000353174.7:n.726-268_726-265dup | |
| ENST00000366574.6:c.774-268_774-265dup | ENSP00000355533.2:n.774-268_774-265dup | |
| NM_001035.2:c.774-268_774-265dup | NP_001026.2:n.774-268_774-265dup | |
| XM_006711802.2:c.774-268_774-265dup | XP_006711865.1:n.774-268_774-265dup | |
| XM_006711803.2:c.774-268_774-265dup | XP_006711866.1:n.774-268_774-265dup | |
| XM_006711804.2:c.774-268_774-265dup | XP_006711867.1:n.774-268_774-265dup | |
| XM_006711805.2:c.774-268_774-265dup | XP_006711868.1:n.774-268_774-265dup | |
| XM_006711806.2:c.774-268_774-265dup | XP_006711869.1:n.774-268_774-265dup | |
| XM_006711807.2:c.774-268_774-265dup | XP_006711870.1:n.774-268_774-265dup | |
| XM_006711808.2:c.774-268_774-265dup | XP_006711871.1:n.774-268_774-265dup | |
| XM_006711809.2:c.774-268_774-265dup | XP_006711872.1:n.774-268_774-265dup | |
| XM_006711810.2:c.774-268_774-265dup | XP_006711873.1:n.774-268_774-265dup | |
| XR_949152.1:n.1055-268_1055-265dup | ||
| XM_006711802.3:c.774-268_774-265dup | XP_006711865.1:n.774-268_774-265dup | |
| XM_006711803.3:c.774-268_774-265dup | XP_006711866.1:n.774-268_774-265dup | |
| XM_006711804.3:c.774-268_774-265dup | XP_006711867.1:n.774-268_774-265dup | |
| XM_006711805.3:c.774-268_774-265dup | XP_006711868.1:n.774-268_774-265dup | |
| XM_006711806.3:c.774-268_774-265dup | XP_006711869.1:n.774-268_774-265dup | |
| XM_006711807.3:c.774-268_774-265dup | XP_006711870.1:n.774-268_774-265dup | |
| XM_006711808.3:c.774-268_774-265dup | XP_006711871.1:n.774-268_774-265dup | |
| XM_006711810.3:c.774-268_774-265dup | XP_006711873.1:n.774-268_774-265dup | |
| XM_017002028.1:c.753-268_753-265dup | XP_016857517.1:n.753-268_753-265dup | |
| XR_002957299.1:n.1088-268_1088-265dup | ||
| XR_949152.2:n.1088-268_1088-265dup | ||
| NM_001035.3:c.774-268_774-265dup MANE Select | NP_001026.2:n.774-268_774-265dup |