Linked Data
dbSNP Id:
rs1355712112
gnomAD v2:
X-19377952-A-ATTATTGAGTGCTTAAAGATTATTT
gnomAD v3:
X-19359834-A-ATTATTGAGTGCTTAAAGATTATTT
gnomAD v4:
X-19359834-A-ATTATTGAGTGCTTAAAGATTATTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359837_19359860dup , CM000685.2:g.19359837_19359860dup | GRCh38 |
| NC_000023.10:g.19377955_19377978dup , CM000685.1:g.19377955_19377978dup | GRCh37 |
| NC_000023.9:g.19287876_19287899dup | NCBI36 |
| NG_016781.1:g.20945_20968dup | |
| NG_021184.1:g.160404_160427dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.*184_*207dup | ENSP00000348062.6:n.*184_*207dup | |
| ENST00000423505.6:c.*184_*207dup | ENSP00000406473.2:n.*184_*207dup | |
| ENST00000696704.1:c.*689_*712dup | ENSP00000512823.1:n.*689_*712dup | |
| ENST00000696705.1:c.*812_*835dup | ENSP00000512824.1:n.*812_*835dup | |
| ENST00000422285.7:c.*184_*207dup MANE Select | ENSP00000394382.2:n.*184_*207dup | |
| ENST00000379806.9:c.*184_*207dup | ENSP00000369134.5:n.*184_*207dup | |
| ENST00000422285.6:c.*184_*207dup | ENSP00000394382.2:n.*184_*207dup | |
| ENST00000540249.5:c.*184_*207dup | ENSP00000440761.1:n.*184_*207dup | |
| ENST00000545074.5:c.*184_*207dup | ENSP00000438550.1:n.*184_*207dup | |
| NM_000284.3:c.*184_*207dup | NP_000275.1:n.*184_*207dup | |
| NM_001173454.1:c.*184_*207dup | NP_001166925.1:n.*184_*207dup | |
| NM_001173455.1:c.*184_*207dup | NP_001166926.1:n.*184_*207dup | |
| NM_001173456.1:c.*184_*207dup | NP_001166927.1:n.*184_*207dup | |
| XM_011545531.1:c.*184_*207dup | XP_011543833.1:n.*184_*207dup | |
| XM_011545532.1:c.*184_*207dup | XP_011543834.1:n.*184_*207dup | |
| NM_000284.4:c.*184_*207dup MANE Select | NP_000275.1:n.*184_*207dup | |
| NM_001173454.2:c.*184_*207dup | NP_001166925.1:n.*184_*207dup | |
| NM_001173455.2:c.*184_*207dup | NP_001166926.1:n.*184_*207dup | |
| NM_001173456.2:c.*184_*207dup | NP_001166927.1:n.*184_*207dup |