Linked Data
ClinVar Variation Id:
407238
ClinVar RCV Id:
RCV000465328
dbSNP Id:
rs1554020233
gnomAD v3:
5-13717420-C-CT
gnomAD v4:
5-13717420-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717422dup , CM000667.2:g.13717422dup | GRCh38 |
| NC_000005.9:g.13717531dup , CM000667.1:g.13717531dup | GRCh37 |
| NC_000005.8:g.13770531dup | NCBI36 |
| NG_013081.1:g.232060dup | |
| NG_013081.2:g.232060dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12599dup MANE Select | ENSP00000265104.4:p.Phe4201ValfsTer13 | |
| ENST00000681290.1:c.12554dup | ENSP00000505288.1:p.Phe4186ValfsTer13 | |
| ENST00000265104.4:c.12599dup | ENSP00000265104.4:p.Phe4201ValfsTer13 | |
| NM_001369.2:c.12599dup | NP_001360.1:p.Phe4201ValfsTer13 | |
| XM_005248262.2:c.12554dup | XP_005248319.1:p.Phe4186ValfsTer13 | |
| XM_005248262.3:c.12707dup | XP_005248319.2:p.Phe4237ValfsTer13 | |
| XM_017009177.1:c.12707dup | XP_016864666.1:p.Phe4237ValfsTer13 | |
| XM_017009178.1:c.11612dup | XP_016864667.1:p.Phe3872ValfsTer13 | |
| XM_017009179.2:c.11612dup | XP_016864668.1:p.Phe3872ValfsTer13 | |
| XM_017009180.1:c.12707dup | XP_016864669.1:p.Phe4237ValfsTer13 | |
| XM_017009185.1:c.7796dup | XP_016864674.1:p.Phe2600ValfsTer13 | |
| XM_017009186.1:c.7349dup | XP_016864675.1:p.Phe2451ValfsTer13 | |
| XM_017009188.1:c.6686dup | XP_016864677.1:p.Phe2230ValfsTer13 | |
| XM_024454388.1:c.11612dup | XP_024310156.1:p.Phe3872ValfsTer13 | |
| XM_024454389.1:c.11201dup | XP_024310157.1:p.Phe3735ValfsTer13 | |
| NM_001369.3:c.12599dup MANE Select | NP_001360.1:p.Phe4201ValfsTer13 |