Linked Data
dbSNP Id:
rs772334224
ExAC:
4:1806143 C / CTGG
gnomAD v2:
4-1806143-C-CTGG
gnomAD v4:
4-1804416-C-CTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1804423_1804425dup , CM000666.2:g.1804423_1804425dup | GRCh38 |
| NC_000004.11:g.1806150_1806152dup , CM000666.1:g.1806150_1806152dup | GRCh37 |
| NC_000004.10:g.1775948_1775950dup | NCBI36 |
| NG_012632.1:g.16112_16114dup , LRG_1021:g.16112_16114dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1175_1177dup | ENSP00000339824.4:p.Val392_Ala393insVal | |
| ENST00000260795.8:c.*225_*227dup | ENSP00000260795.3:n.*225_*227dup | |
| ENST00000352904.6:c.931-401_931-399dup | ENSP00000231803.1:n.931-401_931-399dup | |
| ENST00000412135.7:c.1157_1159dup | ENSP00000412903.3:p.Val386_Ala387insVal | |
| ENST00000440486.8:c.1169_1171dup MANE Select | ENSP00000414914.2:p.Val390_Ala391insVal | |
| ENST00000481110.7:c.1169_1171dup | ENSP00000420533.2:p.Val390_Ala391insVal | |
| ENST00000643463.1:n.320_322dup | ||
| ENST00000260795.6:c.1169_1171dup | ENSP00000260795.2:p.Val390_Ala391insVal | |
| ENST00000340107.8:c.1175_1177dup | ENSP00000339824.4:p.Val392_Ala393insVal | |
| ENST00000352904.5:c.931-401_931-399dup | ENSP00000231803.1:n.931-401_931-399dup | |
| ENST00000412135.6:c.931-401_931-399dup | ENSP00000412903.2:n.931-401_931-399dup | |
| ENST00000440486.6:c.1169_1171dup | ENSP00000414914.2:p.Val390_Ala391insVal | |
| ENST00000481110.6:c.1169_1171dup | ENSP00000420533.2:p.Val390_Ala391insVal | |
| ENST00000613647.4:c.*225_*227dup | ENSP00000479472.1:n.*225_*227dup | |
| NM_000142.4:c.1169_1171dup , LRG_1021t1:c.1169_1171dup | NP_000133.1:p.Val390_Ala391insVal | |
| NM_001163213.1:c.1175_1177dup , LRG_1021t2:c.1175_1177dup | NP_001156685.1:p.Val392_Ala393insVal | |
| NM_022965.3:c.931-401_931-399dup | NP_075254.1:n.931-401_931-399dup | |
| XM_006713868.1:c.1175_1177dup | XP_006713931.1:p.Val392_Ala393insVal | |
| XM_006713869.1:c.1175_1177dup | XP_006713932.1:p.Val392_Ala393insVal | |
| XM_006713870.1:c.1175_1177dup | XP_006713933.1:p.Val392_Ala393insVal | |
| XM_006713871.1:c.1175_1177dup | XP_006713934.1:p.Val392_Ala393insVal | |
| XM_006713872.1:c.1169_1171dup | XP_006713935.1:p.Val390_Ala391insVal | |
| XM_006713873.1:c.1169_1171dup | XP_006713936.1:p.Val390_Ala391insVal | |
| XM_011513420.1:c.1169_1171dup | XP_011511722.1:p.Val390_Ala391insVal | |
| XM_011513422.1:c.1169_1171dup | XP_011511724.1:p.Val390_Ala391insVal | |
| NM_001354809.1:c.1169_1171dup | NP_001341738.1:p.Val390_Ala391insVal | |
| NM_001354810.1:c.1169_1171dup | NP_001341739.1:p.Val390_Ala391insVal | |
| NR_148971.1:n.1576_1578dup | ||
| NM_001354809.2:c.1169_1171dup | NP_001341738.1:p.Val390_Ala391insVal | |
| NM_001354810.2:c.1169_1171dup | NP_001341739.1:p.Val390_Ala391insVal | |
| NR_148971.2:n.1595_1597dup | ||
| NM_000142.5:c.1169_1171dup MANE Select | NP_000133.1:p.Val390_Ala391insVal | |
| NM_001163213.2:c.1175_1177dup | NP_001156685.1:p.Val392_Ala393insVal | |
| NM_022965.4:c.931-401_931-399dup | NP_075254.1:n.931-401_931-399dup |