Canonical Allele Identifier: CA213064

Identifiers and link-outs to other resources

ClinVar Variation Id: 41407
ClinVar RCV Id: RCV000034309
dbSNP Id: rs104895554
MyVariant Identifiers: chr19:g.54938143del (hg38)

User contributed link-outs

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
NM_001127255.1:c.2030del (NLRP7) VV NP_001120727.1:p.Leu677ProfsTer6
NM_139176.3:c.1946del (NLRP7) VV NP_631915.2:p.Leu649ProfsTer6
NM_206828.3:c.2030del (NLRP7) VV 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)
XM_006723076.3:c.2030del (NLRP7)
XM_011526596.2:c.2114del (NLRP7)
XM_011526599.2:c.2030del (NLRP7)
XM_011526601.2:c.2114del (NLRP7)
XM_011527530.3:c.690del (NCR1)
ENST00000328092.9:c.1946del ENSP00000329568.5:p.Leu649ProfsTer6
ENST00000340844.6:c.2030del ENSP00000339491.2:p.Leu677ProfsTer6
ENST00000586379.5:c.2030del ENSP00000468243.1:p.Leu677ProfsTer6
ENST00000588756.5:c.2030del ENSP00000467123.1:p.Leu677ProfsTer6
ENST00000590030.5:c.2030del ENSP00000465520.1:p.Leu677ProfsTer6
ENST00000592784.5:c.2030del ENSP00000468706.1:p.Leu677ProfsTer6