Linked Data
ClinVar Variation Id:
454796
ClinVar RCV Id:
RCV000560103
dbSNP Id:
rs1554062097
gnomAD v4:
5-13817600-CCAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13817603_13817606del , CM000667.2:g.13817603_13817606del | GRCh38 |
| NC_000005.9:g.13817712_13817715del , CM000667.1:g.13817712_13817715del | GRCh37 |
| NC_000005.8:g.13870712_13870715del | NCBI36 |
| NG_013081.1:g.131877_131880del | |
| NG_013081.2:g.131877_131880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683090.1:n.1863_1866del | ||
| ENST00000265104.5:c.6932_6935del MANE Select | ENSP00000265104.4:p.Asp2311GlyfsTer14 | |
| ENST00000681290.1:c.6887_6890del | ENSP00000505288.1:p.Asp2296GlyfsTer14 | |
| ENST00000265104.4:c.6932_6935del | ENSP00000265104.4:p.Asp2311GlyfsTer14 | |
| NM_001369.2:c.6932_6935del | NP_001360.1:p.Asp2311GlyfsTer14 | |
| XM_005248262.2:c.6887_6890del | XP_005248319.1:p.Asp2296GlyfsTer14 | |
| XM_011513990.1:c.6932_6935del | XP_011512292.1:p.Asp2311GlyfsTer14 | |
| XR_925598.1:n.7139_7142del | ||
| XM_005248262.3:c.7040_7043del | XP_005248319.2:p.Asp2347GlyfsTer14 | |
| XM_017009177.1:c.7040_7043del | XP_016864666.1:p.Asp2347GlyfsTer14 | |
| XM_017009178.1:c.5945_5948del | XP_016864667.1:p.Asp1982GlyfsTer14 | |
| XM_017009179.2:c.5945_5948del | XP_016864668.1:p.Asp1982GlyfsTer14 | |
| XM_017009180.1:c.7040_7043del | XP_016864669.1:p.Asp2347GlyfsTer14 | |
| XM_017009181.1:c.7040_7043del | XP_016864670.1:p.Asp2347GlyfsTer14 | |
| XM_017009182.1:c.7040_7043del | XP_016864671.1:p.Asp2347GlyfsTer14 | |
| XM_017009183.1:c.7040_7043del | XP_016864672.1:p.Asp2347GlyfsTer14 | |
| XM_017009184.1:c.7040_7043del | XP_016864673.1:p.Asp2347GlyfsTer14 | |
| XM_017009185.1:c.2129_2132del | XP_016864674.1:p.Asp710GlyfsTer14 | |
| XM_017009186.1:c.1682_1685del | XP_016864675.1:p.Asp561GlyfsTer14 | |
| XM_017009187.1:c.7040_7043del | XP_016864676.1:p.Asp2347GlyfsTer14 | |
| XM_017009188.1:c.1019_1022del | XP_016864677.1:p.Asp340GlyfsTer14 | |
| XM_024454388.1:c.5945_5948del | XP_024310156.1:p.Asp1982GlyfsTer14 | |
| XM_024454389.1:c.5534_5537del | XP_024310157.1:p.Asp1845GlyfsTer14 | |
| XR_001742034.1:n.7057_7060del | ||
| XR_001742035.1:n.7057_7060del | ||
| NM_001369.3:c.6932_6935del MANE Select | NP_001360.1:p.Asp2311GlyfsTer14 |