Linked Data
dbSNP Id:
rs1382161024
gnomAD v2:
1-151378654-G-GGGTGAC
gnomAD v4:
1-151406178-G-GGGTGAC
MyVariant Identifiers:
chr1:g.151378654_151378655insGGTGAC (hg19)
chr1:g.151406178_151406179insGGTGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406179_151406184dup , CM000663.2:g.151406179_151406184dup | GRCh38 |
| NC_000001.10:g.151378655_151378660dup , CM000663.1:g.151378655_151378660dup | GRCh37 |
| NC_000001.9:g.149645279_149645284dup | NCBI36 |
| NG_046601.1:g.58282_58287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.2899_2904dup | ENSP00000518163.1:p.Thr968_Gln969insValThr | |
| ENST00000392723.6:c.2692_2697dup | ENSP00000376484.1:p.Thr899_Gln900insValThr | |
| ENST00000439756.2:c.2851_2856dup | ENSP00000390156.2:p.Thr952_Gln953insValThr | |
| ENST00000703168.1:c.2872_2877dup | ENSP00000515214.1:p.Thr959_Gln960insValThr | |
| ENST00000271715.7:c.2851_2856dup MANE Select | ENSP00000271715.2:p.Thr952_Gln953insValThr | |
| ENST00000271715.6:c.2851_2856dup | ENSP00000271715.2:p.Thr952_Gln953insValThr | |
| ENST00000358476.7:n.2999_3004dup | ||
| ENST00000368863.6:c.2566_2571dup | ENSP00000357856.2:p.Thr857_Gln858insValThr | |
| ENST00000392723.5:c.2692_2697dup | ENSP00000376484.1:p.Thr899_Gln900insValThr | |
| ENST00000409503.5:c.2824_2829dup | ENSP00000386836.1:p.Thr943_Gln944insValThr | |
| ENST00000491586.5:c.2719_2724dup | ENSP00000418408.1:p.Thr908_Gln909insValThr | |
| ENST00000531094.5:c.2665_2670dup | ENSP00000431259.1:p.Thr890_Gln891insValThr | |
| NM_001194937.1:c.2824_2829dup | NP_001181866.1:p.Thr943_Gln944insValThr | |
| NM_001194938.1:c.2665_2670dup | NP_001181867.1:p.Thr890_Gln891insValThr | |
| NM_015100.3:c.2851_2856dup | NP_055915.2:p.Thr952_Gln953insValThr | |
| NM_145796.3:c.2566_2571dup | NP_665739.3:p.Thr857_Gln858insValThr | |
| NM_207171.2:c.2692_2697dup | NP_997054.1:p.Thr899_Gln900insValThr | |
| XM_005244999.1:c.2851_2856dup | XP_005245056.1:p.Thr952_Gln953insValThr | |
| XM_005245000.3:c.2851_2856dup | XP_005245057.1:p.Thr952_Gln953insValThr | |
| XM_005245001.1:c.2851_2856dup | XP_005245058.1:p.Thr952_Gln953insValThr | |
| XM_005245005.1:c.2692_2697dup | XP_005245062.1:p.Thr899_Gln900insValThr | |
| XM_005245006.3:c.2692_2697dup | XP_005245063.1:p.Thr899_Gln900insValThr | |
| XM_011509330.1:c.2743_2748dup | XP_011507632.1:p.Thr916_Gln917insValThr | |
| XM_011509331.1:c.2494_2499dup | XP_011507633.1:p.Thr833_Gln834insValThr | |
| XM_005244999.3:c.2851_2856dup | XP_005245056.1:p.Thr952_Gln953insValThr | |
| XM_005245000.4:c.2851_2856dup | XP_005245057.1:p.Thr952_Gln953insValThr | |
| XM_005245001.2:c.2851_2856dup | XP_005245058.1:p.Thr952_Gln953insValThr | |
| XM_005245005.2:c.2692_2697dup | XP_005245062.1:p.Thr899_Gln900insValThr | |
| XM_005245006.5:c.2692_2697dup | XP_005245063.1:p.Thr899_Gln900insValThr | |
| XM_017000744.1:c.2872_2877dup | XP_016856233.1:p.Thr959_Gln960insValThr | |
| XM_017000745.2:c.2824_2829dup | XP_016856234.1:p.Thr943_Gln944insValThr | |
| XM_017000746.1:c.2824_2829dup | XP_016856235.1:p.Thr943_Gln944insValThr | |
| XM_017000748.1:c.2692_2697dup | XP_016856237.1:p.Thr899_Gln900insValThr | |
| XM_017000749.1:c.2692_2697dup | XP_016856238.1:p.Thr899_Gln900insValThr | |
| XM_024454305.1:c.2725_2730dup | XP_024310073.1:p.Thr910_Gln911insValThr | |
| XM_024454306.1:c.1651_1656dup | XP_024310074.1:p.Thr552_Gln553insValThr | |
| XR_002959801.1:n.2706_2711dup | ||
| NM_015100.4:c.2851_2856dup MANE Select | NP_055915.2:p.Thr952_Gln953insValThr | |
| NM_001194937.2:c.2824_2829dup | NP_001181866.1:p.Thr943_Gln944insValThr | |
| NM_001194938.2:c.2665_2670dup | NP_001181867.1:p.Thr890_Gln891insValThr | |
| NM_145796.4:c.2566_2571dup | NP_665739.3:p.Thr857_Gln858insValThr |