Linked Data
ClinVar Variation Id:
2766675
ClinVar RCV Id:
RCV003580390
dbSNP Id:
rs1725675795
gnomAD v4:
4-99600725-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99600727_99600728del , CM000666.2:g.99600727_99600728del | GRCh38 |
| NC_000004.11:g.100521884_100521885del , CM000666.1:g.100521884_100521885del | GRCh37 |
| NC_000004.10:g.100740907_100740908del | NCBI36 |
| NG_011469.1:g.41645_41646del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.1230_1231del MANE Select | ENSP00000265517.5:p.Leu411HisfsTer2 | |
| ENST00000457717.6:c.1230_1231del | ENSP00000400821.1:p.Leu411HisfsTer2 | |
| ENST00000511045.6:c.981_982del | ENSP00000427679.2:p.Leu328HisfsTer2 | |
| ENST00000265517.9:c.1230_1231del | ENSP00000265517.5:p.Leu411HisfsTer2 | |
| ENST00000457717.5:c.1230_1231del | ENSP00000400821.1:p.Leu411HisfsTer2 | |
| ENST00000511045.5:c.1311_1312del | ENSP00000427679.1:p.Leu438HisfsTer2 | |
| ENST00000619629.1:c.1230_1231del | ENSP00000482850.1:p.Leu411HisfsTer2 | |
| NM_000253.3:c.1230_1231del | NP_000244.2:p.Leu411HisfsTer2 | |
| NM_001300785.1:c.1311_1312del | NP_001287714.1:p.Leu438HisfsTer2 | |
| NM_000253.4:c.1230_1231del | NP_000244.2:p.Leu411HisfsTer2 | |
| NM_001300785.2:c.981_982del | NP_001287714.2:p.Leu328HisfsTer2 | |
| NM_001386140.1:c.1230_1231del MANE Select | NP_001373069.1:p.Leu411HisfsTer2 |