Canonical Allele Identifier: CA603109493

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1357763
• ClinVar RCV Id: RCV001894060
• dbSNP Id: rs1319256929
• gnomAD v2: 12-6442327-T-TGCGGCACAGCTAAAGGAGAAGC
• gnomAD v3: 12-6333161-T-TGCGGCACAGCTAAAGGAGAAGC
• gnomAD v4: 12-6333161-T-TGCGGCACAGCTAAAGGAGAAGC
• MyVariant Identifiers: chr12:g.6442327_6442328insGCGGCACAGCTAAAGGAGAAGC (hg19) ; chr12:g.6333161_6333162insGCGGCACAGCTAAAGGAGAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333164_6333185dup , CM000674.2:g.6333164_6333185dup	GRCh38
NC_000012.11:g.6442330_6442351dup , CM000674.1:g.6442330_6442351dup	GRCh37
NC_000012.10:g.6312591_6312612dup	NCBI36
NG_007506.1:g.13913_13934dup , LRG_193:g.13913_13934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.507-36_507-15dup
ENST00000437813.8:c.473-36_473-15dup	ENSP00000513672.1:n.473-36_473-15dup
ENST00000440083.7:c.656_677dup	ENSP00000413224.3:p.Pro229LeufsTer2
ENST00000535958.2:c.*300-36_*300-15dup	ENSP00000513673.1:n.*300-36_*300-15dup
ENST00000698339.1:c.473-36_473-15dup	ENSP00000513670.1:n.473-36_473-15dup
ENST00000698340.1:c.473-36_473-15dup	ENSP00000513671.1:n.473-36_473-15dup
ENST00000162749.7:c.473-36_473-15dup MANE Select	ENSP00000162749.2:n.473-36_473-15dup
ENST00000162749.6:c.473-36_473-15dup	ENSP00000162749.2:n.473-36_473-15dup
ENST00000366159.8:c.473-36_473-15dup	ENSP00000380389.3:n.473-36_473-15dup
ENST00000437813.7:n.434-36_434-15dup
ENST00000440083.6:c.656_677dup	ENSP00000413224.2:p.Pro229LeufsTer2
ENST00000534885.5:c.319-36_319-15dup	ENSP00000441803.1:n.319-36_319-15dup
ENST00000537842.5:n.77-36_77-15dup
ENST00000539372.5:c.473-36_473-15dup	ENSP00000442059.1:n.473-36_473-15dup
ENST00000540022.5:c.344-36_344-15dup	ENSP00000438343.1:n.344-36_344-15dup
ENST00000543048.5:c.*84-36_*84-15dup	ENSP00000439981.1:n.*84-36_*84-15dup
ENST00000543995.5:c.*60-36_*60-15dup	ENSP00000442405.1:n.*60-36_*60-15dup
NM_001065.3:c.473-36_473-15dup , LRG_193t1:c.473-36_473-15dup	NP_001056.1:n.473-36_473-15dup
NM_001346091.1:c.149-36_149-15dup	NP_001333020.1:n.149-36_149-15dup
NM_001346092.1:c.-105-36_-105-15dup	NP_001333021.1:n.-105-36_-105-15dup
NR_144351.1:n.776-36_776-15dup
NM_001065.4:c.473-36_473-15dup MANE Select	NP_001056.1:n.473-36_473-15dup
NM_001346091.2:c.149-36_149-15dup	NP_001333020.1:n.149-36_149-15dup
NM_001346092.2:c.-105-36_-105-15dup	NP_001333021.1:n.-105-36_-105-15dup
NR_144351.2:n.735-36_735-15dup