Linked Data
dbSNP Id:
rs1376758912
gnomAD v3:
X-19359636-T-TTTAAGTCAGTCAGTTAA
gnomAD v4:
X-19359636-T-TTTAAGTCAGTCAGTTAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359637_19359653dup , CM000685.2:g.19359637_19359653dup | GRCh38 |
| NC_000023.10:g.19377755_19377771dup , CM000685.1:g.19377755_19377771dup | GRCh37 |
| NC_000023.9:g.19287676_19287692dup | NCBI36 |
| NG_016781.1:g.20745_20761dup | |
| NG_021184.1:g.160609_160625dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1178_1194dup | ENSP00000348062.6:n.1178_1194dup | |
| ENST00000379805.4:c.*849_*865dup | ENSP00000369133.3:n.*849_*865dup | |
| ENST00000417819.6:c.1241_1257dup | ENSP00000404616.2:n.1241_1257dup | |
| ENST00000423505.6:c.1271_1287dup | ENSP00000406473.2:n.1271_1287dup | |
| ENST00000481733.2:n.952_968dup | ||
| ENST00000696704.1:c.*489_*505dup | ENSP00000512823.1:n.*489_*505dup | |
| ENST00000696705.1:c.*612_*628dup | ENSP00000512824.1:n.*612_*628dup | |
| ENST00000422285.7:c.1157_1173dup MANE Select | ENSP00000394382.2:n.1157_1173dup | |
| ENST00000379804.1:c.314_330dup | ENSP00000369132.1:n.314_330dup | |
| ENST00000379806.9:c.1271_1287dup | ENSP00000369134.5:n.1271_1287dup | |
| ENST00000422285.6:c.1157_1173dup | ENSP00000394382.2:n.1157_1173dup | |
| ENST00000478795.1:n.596_612dup | ||
| ENST00000540249.5:c.1064_1080dup | ENSP00000440761.1:n.1064_1080dup | |
| ENST00000545074.5:c.1178_1194dup | ENSP00000438550.1:n.1178_1194dup | |
| NM_000284.3:c.1157_1173dup | NP_000275.1:n.1157_1173dup | |
| NM_001173454.1:c.1271_1287dup | NP_001166925.1:n.1271_1287dup | |
| NM_001173455.1:c.1178_1194dup | NP_001166926.1:n.1178_1194dup | |
| NM_001173456.1:c.1064_1080dup | NP_001166927.1:n.1064_1080dup | |
| XM_011545531.1:c.1292_1308dup | XP_011543833.1:n.1292_1308dup | |
| XM_011545532.1:c.1199_1215dup | XP_011543834.1:n.1199_1215dup | |
| XM_017029574.2:c.1178_1194dup | XP_016885063.1:n.1178_1194dup | |
| NM_000284.4:c.1157_1173dup MANE Select | NP_000275.1:n.1157_1173dup | |
| NM_001173454.2:c.1271_1287dup | NP_001166925.1:n.1271_1287dup | |
| NM_001173455.2:c.1178_1194dup | NP_001166926.1:n.1178_1194dup | |
| NM_001173456.2:c.1064_1080dup | NP_001166927.1:n.1064_1080dup |