Canonical Allele Identifier: CA915947871
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 725546
ClinVar RCV Id: RCV000899626
dbSNP Id: rs1592046975

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333156_6333157insCAGGA , CM000674.2:g.6333156_6333157insCAGGA GRCh38
NC_000012.11:g.6442322_6442323insCAGGA , CM000674.1:g.6442322_6442323insCAGGA GRCh37
NC_000012.10:g.6312583_6312584insCAGGA NCBI36
NG_007506.1:g.13942_13943insTGTCC , LRG_193:g.13942_13943insTGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.507-7_507-6insTGTCC
ENST00000437813.8:c.473-7_473-6insTGTCC ENSP00000513672.1:n.473-7_473-6insTGTCC
ENST00000440083.7:c.685_686insTGTCC ENSP00000413224.3:p.Pro229LeufsTer21
ENST00000535958.2:c.*300-7_*300-6insTGTCC ENSP00000513673.1:n.*300-7_*300-6insTGTCC
ENST00000698339.1:c.473-7_473-6insTGTCC ENSP00000513670.1:n.473-7_473-6insTGTCC
ENST00000698340.1:c.473-7_473-6insTGTCC ENSP00000513671.1:n.473-7_473-6insTGTCC
ENST00000162749.7:c.473-7_473-6insTGTCC MANE Select ENSP00000162749.2:n.473-7_473-6insTGTCC
ENST00000162749.6:c.473-7_473-6insTGTCC ENSP00000162749.2:n.473-7_473-6insTGTCC
ENST00000366159.8:c.473-7_473-6insTGTCC ENSP00000380389.3:n.473-7_473-6insTGTCC
ENST00000437813.7:n.434-7_434-6insTGTCC
ENST00000440083.6:c.685_686insTGTCC ENSP00000413224.2:p.Pro229LeufsTer21
ENST00000534885.5:c.319-7_319-6insTGTCC ENSP00000441803.1:n.319-7_319-6insTGTCC
ENST00000537842.5:n.77-7_77-6insTGTCC
ENST00000539372.5:c.473-7_473-6insTGTCC ENSP00000442059.1:n.473-7_473-6insTGTCC
ENST00000540022.5:c.344-7_344-6insTGTCC ENSP00000438343.1:n.344-7_344-6insTGTCC
ENST00000543048.5:c.*84-7_*84-6insTGTCC ENSP00000439981.1:n.*84-7_*84-6insTGTCC
ENST00000543995.5:c.*60-7_*60-6insTGTCC ENSP00000442405.1:n.*60-7_*60-6insTGTCC
NM_001065.3:c.473-7_473-6insTGTCC , LRG_193t1:c.473-7_473-6insTGTCC NP_001056.1:n.473-7_473-6insTGTCC
NM_001346091.1:c.149-7_149-6insTGTCC NP_001333020.1:n.149-7_149-6insTGTCC
NM_001346092.1:c.-105-7_-105-6insTGTCC NP_001333021.1:n.-105-7_-105-6insTGTCC
NR_144351.1:n.776-7_776-6insTGTCC
NM_001065.4:c.473-7_473-6insTGTCC MANE Select NP_001056.1:n.473-7_473-6insTGTCC
NM_001346091.2:c.149-7_149-6insTGTCC NP_001333020.1:n.149-7_149-6insTGTCC
NM_001346092.2:c.-105-7_-105-6insTGTCC NP_001333021.1:n.-105-7_-105-6insTGTCC
NR_144351.2:n.735-7_735-6insTGTCC