Linked Data
ClinVar Variation Id:
418411
ClinVar RCV Id:
RCV002413316
dbSNP Id:
rs1064793231
gnomAD v4:
12-32822536-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32822540del , CM000674.2:g.32822540del | GRCh38 |
| NC_000012.11:g.32975474del , CM000674.1:g.32975474del | GRCh37 |
| NC_000012.10:g.32866741del | NCBI36 |
| NG_009000.1:g.79310del , LRG_398:g.79310del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700555.2:n.281del | ||
| ENST00000700559.2:c.1769del | ENSP00000515065.2:p.Asn590ThrfsTer22 | |
| ENST00000700563.2:c.1769del | ENSP00000515066.2:p.Asn590ThrfsTer22 | |
| ENST00000546498.2:n.456del | ||
| ENST00000700555.1:c.209del | ENSP00000515062.1:p.Asn70ThrfsTer? | |
| ENST00000700556.1:c.240del | ||
| ENST00000700559.1:c.984del | ||
| ENST00000700560.1:n.984del | ||
| ENST00000700561.1:n.1110del | ||
| ENST00000700563.1:c.1723del | ||
| ENST00000700564.1:n.1773del | ||
| ENST00000070846.11:c.1901del | ENSP00000070846.6:p.Asn634ThrfsTer22 | |
| ENST00000340811.9:c.1769del MANE Select | ENSP00000342800.5:p.Asn590ThrfsTer22 | |
| ENST00000070846.10:c.1901del | ENSP00000070846.6:p.Asn634ThrfsTer22 | |
| ENST00000340811.8:c.1769del | ENSP00000342800.4:p.Asn590ThrfsTer22 | |
| ENST00000546498.1:n.456del | ||
| ENST00000552612.5:n.190del | ||
| ENST00000613243.1:c.1901del | ENSP00000478295.1:p.Asn634ThrfsTer22 | |
| NM_001005242.2:c.1769del | NP_001005242.2:p.Asn590ThrfsTer22 | |
| NM_004572.3:c.1901del , LRG_398t1:c.1901del | NP_004563.2:p.Asn634ThrfsTer22 | |
| NM_001005242.3:c.1769del MANE Select | NP_001005242.2:p.Asn590ThrfsTer22 | |
| NM_004572.4:c.1901del | NP_004563.2:p.Asn634ThrfsTer22 |