Linked Data
ClinVar Variation Id:
454806
ClinVar RCV Id:
RCV000533129
dbSNP Id:
rs749082955
ExAC:
5:13794140 G / GT
gnomAD v2:
5-13794140-G-GT
gnomAD v4:
5-13794031-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13794034dup , CM000667.2:g.13794034dup | GRCh38 |
| NC_000005.9:g.13794143dup , CM000667.1:g.13794143dup | GRCh37 |
| NC_000005.8:g.13847143dup | NCBI36 |
| NG_013081.1:g.155449dup | |
| NG_013081.2:g.155449dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.7914dup MANE Select | ENSP00000265104.4:p.Arg2639ThrfsTer19 | |
| ENST00000681290.1:c.7869dup | ENSP00000505288.1:p.Arg2624ThrfsTer19 | |
| ENST00000265104.4:c.7914dup | ENSP00000265104.4:p.Arg2639ThrfsTer19 | |
| NM_001369.2:c.7914dup | NP_001360.1:p.Arg2639ThrfsTer19 | |
| XM_005248262.2:c.7869dup | XP_005248319.1:p.Arg2624ThrfsTer19 | |
| XM_011513990.1:c.7914dup | XP_011512292.1:p.Arg2639ThrfsTer19 | |
| XR_925598.1:n.8121dup | ||
| XM_005248262.3:c.8022dup | XP_005248319.2:p.Arg2675ThrfsTer19 | |
| XM_017009177.1:c.8022dup | XP_016864666.1:p.Arg2675ThrfsTer19 | |
| XM_017009178.1:c.6927dup | XP_016864667.1:p.Arg2310ThrfsTer19 | |
| XM_017009179.2:c.6927dup | XP_016864668.1:p.Arg2310ThrfsTer19 | |
| XM_017009180.1:c.8022dup | XP_016864669.1:p.Arg2675ThrfsTer19 | |
| XM_017009181.1:c.8022dup | XP_016864670.1:p.Arg2675ThrfsTer19 | |
| XM_017009182.1:c.8022dup | XP_016864671.1:p.Arg2675ThrfsTer19 | |
| XM_017009183.1:c.8022dup | XP_016864672.1:p.Arg2675ThrfsTer19 | |
| XM_017009184.1:c.8022dup | XP_016864673.1:p.Arg2675ThrfsTer19 | |
| XM_017009185.1:c.3111dup | XP_016864674.1:p.Arg1038ThrfsTer19 | |
| XM_017009186.1:c.2664dup | XP_016864675.1:p.Arg889ThrfsTer19 | |
| XM_017009187.1:c.*17dup | XP_016864676.1:n.*17dup | |
| XM_017009188.1:c.2001dup | XP_016864677.1:p.Arg668ThrfsTer19 | |
| XM_024454388.1:c.6927dup | XP_024310156.1:p.Arg2310ThrfsTer19 | |
| XM_024454389.1:c.6516dup | XP_024310157.1:p.Arg2173ThrfsTer19 | |
| XR_001742034.1:n.8039dup | ||
| XR_001742035.1:n.8039dup | ||
| NM_001369.3:c.7914dup MANE Select | NP_001360.1:p.Arg2639ThrfsTer19 |