Linked Data
ClinVar Variation Id:
3052220
ClinVar RCV Id:
RCV003969105
dbSNP Id:
rs2032082226
gnomAD v3:
19-7645164-G-GCCGCCTCCACCCTGCCCATTCCCGTCCC
gnomAD v4:
19-7645164-G-GCCGCCTCCACCCTGCCCATTCCCGTCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7645167_7645194dup , CM000681.2:g.7645167_7645194dup | GRCh38 |
| NC_000019.9:g.7710053_7710080dup , CM000681.1:g.7710053_7710080dup | GRCh37 |
| NC_000019.8:g.7616053_7616080dup | NCBI36 |
| NG_016709.1:g.13063_13090dup , LRG_165:g.13063_13090dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*1201-30_*1201-3dup | ENSP00000469553.2:n.*1201-30_*1201-3dup | |
| ENST00000600702.6:c.1247-30_1247-3dup | ENSP00000471737.2:n.1247-30_1247-3dup | |
| ENST00000698368.1:c.*1350-30_*1350-3dup | ENSP00000513686.1:n.*1350-30_*1350-3dup | |
| ENST00000698369.1:n.2397-30_2397-3dup | ||
| ENST00000698370.1:n.1054-30_1054-3dup | ||
| ENST00000698371.1:c.775-30_775-3dup | ENSP00000513688.1:n.775-30_775-3dup | |
| ENST00000221283.10:c.1247-30_1247-3dup MANE Select | ENSP00000221283.4:n.1247-30_1247-3dup | |
| ENST00000221283.9:c.1247-30_1247-3dup | ENSP00000221283.4:n.1247-30_1247-3dup | |
| ENST00000414284.6:c.1238-30_1238-3dup | ENSP00000409471.1:n.1238-30_1238-3dup | |
| ENST00000441779.6:c.1280-30_1280-3dup | ENSP00000413606.2:n.1280-30_1280-3dup | |
| ENST00000593854.5:n.405-30_405-3dup | ||
| ENST00000595800.1:n.241-30_241-3dup | ||
| ENST00000597068.5:c.1222-30_1222-3dup | ENSP00000471327.1:n.1222-30_1222-3dup | |
| ENST00000599400.1:c.171-30_171-3dup | ||
| ENST00000599558.1:n.188-30_188-3dup | ||
| ENST00000599737.5:c.1050-30_1050-3dup | ENSP00000471585.1:n.1050-30_1050-3dup | |
| ENST00000600702.5:c.330-30_330-3dup | ||
| ENST00000622853.4:c.1247-30_1247-3dup | ENSP00000480468.1:n.1247-30_1247-3dup | |
| NM_001127396.2:c.1238-30_1238-3dup | NP_001120868.1:n.1238-30_1238-3dup | |
| NM_001272034.1:c.1280-30_1280-3dup | NP_001258963.1:n.1280-30_1280-3dup | |
| NM_006949.3:c.1247-30_1247-3dup | NP_008880.2:n.1247-30_1247-3dup | |
| NR_073560.1:n.1271-30_1271-3dup | ||
| XM_011528210.1:c.1247-30_1247-3dup | XP_011526512.1:n.1247-30_1247-3dup | |
| XM_011528211.1:c.1166-30_1166-3dup | XP_011526513.1:n.1166-30_1166-3dup | |
| XM_011528210.2:c.1247-30_1247-3dup | XP_011526512.1:n.1247-30_1247-3dup | |
| XR_001753741.2:n.1317-30_1317-3dup | ||
| NM_006949.4:c.1247-30_1247-3dup MANE Select | NP_008880.2:n.1247-30_1247-3dup | |
| NM_001127396.3:c.1238-30_1238-3dup | NP_001120868.1:n.1238-30_1238-3dup | |
| NM_001272034.2:c.1280-30_1280-3dup | NP_001258963.1:n.1280-30_1280-3dup | |
| NR_073560.2:n.1262-30_1262-3dup |