Linked Data
ClinVar Variation Id:
2808359
ClinVar RCV Id:
RCV003684810
gnomAD v4:
4-6301493-C-CCTCTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301494_6301499dup , CM000666.2:g.6301494_6301499dup | GRCh38 |
| NC_000004.11:g.6303221_6303226dup , CM000666.1:g.6303221_6303226dup | GRCh37 |
| NC_000004.10:g.6354122_6354127dup | NCBI36 |
| NG_011700.1:g.36645_36650dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1735_1740dup | ENSP00000507852.1:p.Phe580_Ala581insLeuPhe | |
| ENST00000683395.1:c.1676_1681dup | ||
| ENST00000684087.1:c.1699_1704dup | ENSP00000506978.1:p.Phe568_Ala569insLeuPhe | |
| ENST00000506362.2:c.1450_1455dup | ENSP00000424103.2:p.Phe485_Ala486insLeuPhe | |
| ENST00000673642.1:c.1358_1363dup | ENSP00000501242.1:n.1358_1363dup | |
| ENST00000673991.1:c.1735_1740dup | ENSP00000501033.1:p.Phe580_Ala581insLeuPhe | |
| ENST00000226760.5:c.1699_1704dup MANE Select | ENSP00000226760.1:p.Phe568_Ala569insLeuPhe | |
| ENST00000503569.5:c.1699_1704dup | ENSP00000423337.1:p.Phe568_Ala569insLeuPhe | |
| ENST00000507765.1:n.1884_1889dup | ||
| NM_001145853.1:c.1699_1704dup | NP_001139325.1:p.Phe568_Ala569insLeuPhe | |
| NM_006005.3:c.1699_1704dup MANE Select | NP_005996.2:p.Phe568_Ala569insLeuPhe | |
| XM_017008586.1:c.1708_1713dup | XP_016864075.1:p.Phe571_Ala572insLeuPhe |