Linked Data
dbSNP Id:
rs1563149417
gnomAD v2:
7-150645549-C-CGGA
gnomAD v4:
7-150948461-C-CGGA
MyVariant Identifiers:
chr7:g.150645549_150645550insGGA (hg19)
chr7:g.150948461_150948462insGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948462_150948464dup , CM000669.2:g.150948462_150948464dup | GRCh38 |
| NC_000007.13:g.150645550_150645552dup , CM000669.1:g.150645550_150645552dup | GRCh37 |
| NC_000007.12:g.150276483_150276485dup | NCBI36 |
| NG_008916.1:g.34463_34465dup , LRG_288:g.34463_34465dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3505_3507dup | ||
| ENST00000262186.10:c.2672_2674dup MANE Select | ENSP00000262186.5:p.Phe891_Arg892insLeu | |
| ENST00000330883.9:c.1652_1654dup | ENSP00000328531.4:p.Phe551_Arg552insLeu | |
| ENST00000262186.9:c.2672_2674dup | ENSP00000262186.5:p.Phe891_Arg892insLeu | |
| ENST00000330883.8:c.1652_1654dup | ENSP00000328531.4:p.Phe551_Arg552insLeu | |
| NM_000238.3:c.2672_2674dup , LRG_288t1:c.2672_2674dup | NP_000229.1:p.Phe891_Arg892insLeu | |
| NM_172057.2:c.1652_1654dup , LRG_288t3:c.1652_1654dup | NP_742054.1:p.Phe551_Arg552insLeu | |
| XM_011516185.1:c.2372_2374dup | XP_011514487.1:p.Phe791_Arg792insLeu | |
| XM_011516186.1:c.2672_2674dup | XP_011514488.1:p.Phe891_Arg892insLeu | |
| XM_011516185.2:c.2372_2374dup | XP_011514487.1:p.Phe791_Arg792insLeu | |
| XM_011516186.3:c.2672_2674dup | XP_011514488.1:p.Phe891_Arg892insLeu | |
| XM_017012195.1:c.2522_2524dup | XP_016867684.1:p.Phe841_Arg842insLeu | |
| XM_017012196.1:c.2495_2497dup | XP_016867685.1:p.Phe832_Arg833insLeu | |
| NM_000238.4:c.2672_2674dup MANE Select | NP_000229.1:p.Phe891_Arg892insLeu | |
| NM_172057.3:c.1652_1654dup | NP_742054.1:p.Phe551_Arg552insLeu |