Linked Data
dbSNP Id:
rs1266895745
gnomAD v2:
3-10184843-G-GGAGTGCAGTGGCCCACGCTA
gnomAD v3:
3-10143159-G-GGAGTGCAGTGGCCCACGCTA
gnomAD v4:
3-10143159-G-GGAGTGCAGTGGCCCACGCTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10143162_10143181dup , CM000665.2:g.10143162_10143181dup | GRCh38 |
| NC_000003.11:g.10184846_10184865dup , CM000665.1:g.10184846_10184865dup | GRCh37 |
| NC_000003.10:g.10159846_10159865dup | NCBI36 |
| NG_008212.3:g.6528_6547dup , LRG_322:g.6528_6547dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*17+141_*17+160dup | ENSP00000512434.1:n.*17+141_*17+160dup | |
| ENST00000696143.1:c.599+141_599+160dup | ENSP00000512435.1:n.599+141_599+160dup | |
| ENST00000696153.1:c.340+975_340+994dup | ENSP00000512444.1:n.340+975_340+994dup | |
| ENST00000256474.3:c.340+975_340+994dup MANE Select | ENSP00000256474.3:n.340+975_340+994dup | |
| ENST00000256474.2:c.340+975_340+994dup | ENSP00000256474.2:n.340+975_340+994dup | |
| ENST00000345392.2:c.340+975_340+994dup | ENSP00000344757.2:n.340+975_340+994dup | |
| ENST00000477538.1:n.476+141_476+160dup | ||
| NM_000551.3:c.340+975_340+994dup , LRG_322t1:c.340+975_340+994dup | NP_000542.1:n.340+975_340+994dup | |
| NM_198156.2:c.340+975_340+994dup | NP_937799.1:n.340+975_340+994dup | |
| XM_011534078.1:c.*17+141_*17+160dup | XP_011532380.1:n.*17+141_*17+160dup | |
| NM_001354723.1:c.*17+141_*17+160dup | NP_001341652.1:n.*17+141_*17+160dup | |
| NM_000551.4:c.340+975_340+994dup MANE Select | NP_000542.1:n.340+975_340+994dup | |
| NM_001354723.2:c.*17+141_*17+160dup | NP_001341652.1:n.*17+141_*17+160dup | |
| NM_198156.3:c.340+975_340+994dup | NP_937799.1:n.340+975_340+994dup |