Linked Data
ClinVar Variation Id:
39024
ClinVar RCV Id:
RCV000032289
dbSNP Id:
rs281864971
gnomAD v4:
12-101770110-A-ACAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770112_101770115dup , CM000674.2:g.101770112_101770115dup | GRCh38 |
| NC_000012.11:g.102163890_102163893dup , CM000674.1:g.102163890_102163893dup | GRCh37 |
| NC_000012.10:g.100688021_100688024dup | NCBI36 |
| NG_021243.1:g.65754_65757dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.1191_1194dup MANE Select | ENSP00000299314.7:p.Ser399AlafsTer10 | |
| ENST00000299314.11:c.1191_1194dup | ENSP00000299314.7:p.Ser399AlafsTer10 | |
| ENST00000549940.5:c.1191_1194dup | ENSP00000449150.1:p.Ser399AlafsTer10 | |
| NM_024312.4:c.1191_1194dup | NP_077288.2:p.Ser399AlafsTer10 | |
| XM_006719593.2:c.1191_1194dup | XP_006719656.1:p.Ser399AlafsTer10 | |
| XM_011538731.1:c.1110_1113dup | XP_011537033.1:p.Ser372AlafsTer10 | |
| XM_006719593.3:c.1191_1194dup | XP_006719656.1:p.Ser399AlafsTer10 | |
| XM_011538731.2:c.1110_1113dup | XP_011537033.1:p.Ser372AlafsTer10 | |
| XM_017019961.1:c.975_978dup | XP_016875450.1:p.Ser327AlafsTer10 | |
| XM_017019962.2:c.-37_-34dup | XP_016875451.1:n.-37_-34dup | |
| NM_024312.5:c.1191_1194dup MANE Select | NP_077288.2:p.Ser399AlafsTer10 |