Linked Data
ClinVar Variation Id:
41407
ClinVar RCV Id:
RCV000034309
dbSNP Id:
rs104895554
MyVariant Identifiers:
chr19:g.54938143del (hg38)
PubMed:
PMID:19246479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54938143del , CM000681.2:g.54938143del | GRCh38 |
| NC_000019.8:g.60141323del | NCBI36 |
| NG_008056.1:g.14363del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592784.6:c.2030del (NLRP7) MANE Select | ENSP00000468706.1:p.Leu677ProfsTer6 | |
| ENST00000328092.9:c.1946del (NLRP7) | ENSP00000329568.5:p.Leu649ProfsTer6 | |
| ENST00000340844.6:c.2030del (NLRP7) | ENSP00000339491.2:p.Leu677ProfsTer6 | |
| ENST00000586379.5:c.2030del (NLRP7) | ENSP00000468243.1:p.Leu677ProfsTer6 | |
| ENST00000588756.5:c.2030del (NLRP7) | ENSP00000467123.1:p.Leu677ProfsTer6 | |
| ENST00000590030.5:c.2030del (NLRP7) | ENSP00000465520.1:p.Leu677ProfsTer6 | |
| ENST00000592784.5:c.2030del (NLRP7) | ENSP00000468706.1:p.Leu677ProfsTer6 | |
| NM_001127255.1:c.2030del (NLRP7) | NP_001120727.1:p.Leu677ProfsTer6 | |
| NM_139176.3:c.1946del (NLRP7) | NP_631915.2:p.Leu649ProfsTer6 | |
| NM_206828.3:c.2030del (NLRP7) | NP_996611.2:p.Leu677ProfsTer6 | |
| XM_006723075.2:c.2030del (NLRP7) | XP_006723138.1:p.Leu677ProfsTer6 | |
| XM_006723076.2:c.2030del (NLRP7) | XP_006723139.1:p.Leu677ProfsTer6 | |
| XM_011526596.1:c.2114del (NLRP7) | XP_011524898.1:p.Leu705ProfsTer6 | |
| XM_011526597.1:c.2114del (NLRP7) | XP_011524899.1:p.Leu705ProfsTer6 | |
| XM_011526598.1:c.2114del (NLRP7) | XP_011524900.1:p.Leu705ProfsTer6 | |
| XM_011526599.1:c.2030del (NLRP7) | XP_011524901.1:p.Leu677ProfsTer6 | |
| XM_011526600.1:c.2030del (NLRP7) | XP_011524902.1:p.Leu677ProfsTer6 | |
| XM_011526601.1:c.2114del (NLRP7) | XP_011524903.1:p.Leu705ProfsTer6 | |
| XM_011527530.1:c.690del (NCR1) | XP_011525832.1:p.Ter230TrpextTer5 | |
| XR_935761.1:n.2548del (NLRP7) | ||
| XM_006723075.3:c.2030del (NLRP7) | XP_006723138.1:p.Leu677ProfsTer6 | |
| XM_006723076.3:c.2030del (NLRP7) | XP_006723139.1:p.Leu677ProfsTer6 | |
| XM_011526596.2:c.2114del (NLRP7) | XP_011524898.1:p.Leu705ProfsTer6 | |
| XM_011526599.2:c.2030del (NLRP7) | XP_011524901.1:p.Leu677ProfsTer6 | |
| XM_011526601.2:c.2114del (NLRP7) | XP_011524903.1:p.Leu705ProfsTer6 | |
| XM_011527530.3:c.690del (NCR1) | XP_011525832.1:p.Ter230TrpextTer5 |