Linked Data
dbSNP Id:
rs1554424632
gnomAD v2:
7-150645540-G-GTGCGCCTGCGGAAGGACAACT
gnomAD v4:
7-150948452-G-GTGCGCCTGCGGAAGGACAACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948458_150948478dup , CM000669.2:g.150948458_150948478dup | GRCh38 |
| NC_000007.13:g.150645546_150645566dup , CM000669.1:g.150645546_150645566dup | GRCh37 |
| NC_000007.12:g.150276479_150276499dup | NCBI36 |
| NG_008916.1:g.34454_34474dup , LRG_288:g.34454_34474dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3496_3516dup | ||
| ENST00000262186.10:c.2663_2683dup MANE Select | ENSP00000262186.5:p.Arg894_Thr895insLysLeuSerPheArgArgArg | |
| ENST00000330883.9:c.1643_1663dup | ENSP00000328531.4:p.Arg554_Thr555insLysLeuSerPheArgArgArg | |
| ENST00000262186.9:c.2663_2683dup | ENSP00000262186.5:p.Arg894_Thr895insLysLeuSerPheArgArgArg | |
| ENST00000330883.8:c.1643_1663dup | ENSP00000328531.4:p.Arg554_Thr555insLysLeuSerPheArgArgArg | |
| NM_000238.3:c.2663_2683dup , LRG_288t1:c.2663_2683dup | NP_000229.1:p.Arg894_Thr895insLysLeuSerPheArgArgArg | |
| NM_172057.2:c.1643_1663dup , LRG_288t3:c.1643_1663dup | NP_742054.1:p.Arg554_Thr555insLysLeuSerPheArgArgArg | |
| XM_011516185.1:c.2363_2383dup | XP_011514487.1:p.Arg794_Thr795insLysLeuSerPheArgArgArg | |
| XM_011516186.1:c.2663_2683dup | XP_011514488.1:p.Arg894_Thr895insLysLeuSerPheArgArgArg | |
| XM_011516185.2:c.2363_2383dup | XP_011514487.1:p.Arg794_Thr795insLysLeuSerPheArgArgArg | |
| XM_011516186.3:c.2663_2683dup | XP_011514488.1:p.Arg894_Thr895insLysLeuSerPheArgArgArg | |
| XM_017012195.1:c.2513_2533dup | XP_016867684.1:p.Arg844_Thr845insLysLeuSerPheArgArgArg | |
| XM_017012196.1:c.2486_2506dup | XP_016867685.1:p.Arg835_Thr836insLysLeuSerPheArgArgArg | |
| NM_000238.4:c.2663_2683dup MANE Select | NP_000229.1:p.Arg894_Thr895insLysLeuSerPheArgArgArg | |
| NM_172057.3:c.1643_1663dup | NP_742054.1:p.Arg554_Thr555insLysLeuSerPheArgArgArg |