Linked Data
ClinVar Variation Id:
41936
dbSNP Id:
rs367543070
gnomAD v4:
1-235489219-CCA-C
PubMed:
PMID:23453667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235489222_235489223del , CM000663.2:g.235489222_235489223del | GRCh38 |
| NC_000001.10:g.235652527_235652528del , CM000663.1:g.235652527_235652528del | GRCh37 |
| NC_000001.9:g.233719150_233719151del | NCBI36 |
| NG_033219.2:g.20261_20262del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366600.8:c.308_309del MANE Select | ENSP00000355559.3:p.Val103GlyfsTer10 | |
| ENST00000675193.1:c.431_432del | ENSP00000502069.1:p.Val144GlyfsTer10 | |
| ENST00000675555.1:c.86_87del | ENSP00000501896.1:p.Val29GlyfsTer10 | |
| ENST00000676288.1:c.431_432del | ENSP00000502392.1:p.Val144GlyfsTer10 | |
| ENST00000313984.3:c.431_432del | ENSP00000315678.3:p.Val144GlyfsTer10 | |
| ENST00000366600.7:c.308_309del | ENSP00000355559.3:p.Val103GlyfsTer10 | |
| ENST00000494378.1:n.434-4706_434-4705del | ||
| ENST00000612859.4:c.261-4706_261-4705del | ENSP00000481548.1:n.261-4706_261-4705del | |
| NM_001277155.2:c.431_432del | NP_001264084.1:p.Val144GlyfsTer10 | |
| NM_152490.4:c.308_309del | NP_689703.1:p.Val103GlyfsTer10 | |
| XM_005273071.3:c.308_309del | XP_005273128.1:p.Val103GlyfsTer10 | |
| XM_006711749.2:c.308_309del | XP_006711812.1:p.Val103GlyfsTer10 | |
| XM_011544096.1:c.308_309del | XP_011542398.1:p.Val103GlyfsTer10 | |
| XM_011544097.1:c.308_309del | XP_011542399.1:p.Val103GlyfsTer10 | |
| XM_006711749.3:c.308_309del | XP_006711812.1:p.Val103GlyfsTer10 | |
| XM_017000394.1:c.431_432del | XP_016855883.1:p.Val144GlyfsTer10 | |
| XM_017000395.1:c.431_432del | XP_016855884.1:p.Val144GlyfsTer10 | |
| XR_001736987.1:n.596_597del | ||
| XR_001736988.1:n.596_597del | ||
| XR_001736989.1:n.596_597del | ||
| XR_001736990.1:n.479_480del | ||
| NM_152490.5:c.308_309del MANE Select | NP_689703.1:p.Val103GlyfsTer10 | |
| NM_001277155.3:c.431_432del | NP_001264084.1:p.Val144GlyfsTer10 |