Linked Data
ClinVar Variation Id:
135674
ClinVar RCV Id:
RCV000122744
dbSNP Id:
rs587777434
PubMed:
PMID:24115232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48905476_48905477del , CM000685.2:g.48905476_48905477del | GRCh38 |
| NC_000023.10:g.48762753_48762754del , CM000685.1:g.48762753_48762754del | GRCh37 |
| NC_000023.9:g.48647697_48647698del | NCBI36 |
| NG_034300.1:g.11483_11484del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247138.11:c.433_434del MANE Select | ENSP00000247138.5:p.Tyr145ProfsTer? | |
| ENST00000247138.10:c.433_434del | ENSP00000247138.5:p.Tyr145ProfsTer? | |
| ENST00000376515.8:c.355-584_355-583del | ENSP00000365698.3:n.355-584_355-583del | |
| ENST00000376521.6:c.433_434del | ENSP00000365704.1:p.Tyr145ProfsTer? | |
| ENST00000376529.8:c.427-584_427-583del | ENSP00000365712.3:n.427-584_427-583del | |
| ENST00000413561.7:c.212-217_212-216del | ||
| ENST00000445167.7:c.427-584_427-583del | ENSP00000402726.2:n.427-584_427-583del | |
| ENST00000446885.1:c.217_218del | ENSP00000415518.1:p.Tyr73ProfsTer? | |
| ENST00000452555.7:c.517_518del | ENSP00000416002.2:p.Tyr173ProfsTer? | |
| ENST00000616181.5:c.472_473del | ENSP00000478617.1:p.Tyr158ProfsTer? | |
| ENST00000634665.1:c.*53_*54del | ENSP00000489356.1:n.*53_*54del | |
| ENST00000635238.1:c.394_395del | ENSP00000489515.1:p.Tyr132ProfsTer? | |
| ENST00000635285.1:c.433_434del | ENSP00000489484.1:p.Tyr145ProfsTer? | |
| ENST00000635460.1:c.424+916_424+917del | ||
| ENST00000635589.1:c.250_251del | ENSP00000489197.1:p.Tyr84ProfsTer? | |
| ENST00000635628.1:c.*327_*328del | ENSP00000489613.1:n.*327_*328del | |
| NM_001032289.2:c.427-584_427-583del | NP_001027460.1:n.427-584_427-583del | |
| NM_001042498.2:c.433_434del | NP_001035963.1:p.Tyr145ProfsTer? | |
| NM_001282647.1:c.427-584_427-583del | NP_001269576.1:n.427-584_427-583del | |
| NM_001282648.1:c.355-584_355-583del | NP_001269577.1:n.355-584_355-583del | |
| NM_001282649.1:c.250_251del | NP_001269578.1:p.Tyr84ProfsTer? | |
| NM_001282650.1:c.472_473del | NP_001269579.1:p.Tyr158ProfsTer? | |
| NM_001282651.1:c.517_518del | NP_001269580.1:p.Tyr173ProfsTer? | |
| NM_005660.2:c.433_434del | NP_005651.1:p.Tyr145ProfsTer? | |
| NM_005660.3:c.433_434del MANE Select | NP_005651.1:p.Tyr145ProfsTer? | |
| NM_001032289.3:c.427-584_427-583del | NP_001027460.1:n.427-584_427-583del | |
| NM_001042498.3:c.433_434del | NP_001035963.1:p.Tyr145ProfsTer? | |
| NM_001282647.2:c.427-584_427-583del | NP_001269576.1:n.427-584_427-583del | |
| NM_001282649.2:c.250_251del | NP_001269578.1:p.Tyr84ProfsTer? | |
| NM_001282650.2:c.472_473del | NP_001269579.1:p.Tyr158ProfsTer? | |
| NM_001282651.2:c.517_518del | NP_001269580.1:p.Tyr173ProfsTer? | |
| NM_001282648.2:c.355-584_355-583del | NP_001269577.1:n.355-584_355-583del |