Canonical Allele Identifier: CA280874

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97709
• ClinVar RCV Id: RCV000083962
• dbSNP Id: rs104895272
• MyVariant Identifiers: chr12:g.6440032_6440058del (hg19) ; chr12:g.6330866_6330892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330868_6330894del , CM000674.2:g.6330868_6330894del	GRCh38
NC_000012.11:g.6440034_6440060del , CM000674.1:g.6440034_6440060del	GRCh37
NC_000012.10:g.6310295_6310321del	NCBI36
NG_007506.1:g.16204_16230del , LRG_193:g.16204_16230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1687_1713del
ENST00000437813.8:c.*47_*73del	ENSP00000513672.1:n.*47_*73del
ENST00000440083.7:c.805_831del	ENSP00000413224.3:p.Leu269_Gly277del
ENST00000535038.2:n.768_794del
ENST00000535958.2:c.*413_*439del	ENSP00000513673.1:n.*413_*439del
ENST00000698337.1:n.435_461del
ENST00000698338.1:n.859_885del
ENST00000698339.1:c.*81_*107del	ENSP00000513670.1:n.*81_*107del
ENST00000698340.1:c.552-181_552-155del	ENSP00000513671.1:n.552-181_552-155del
ENST00000162749.7:c.586_612del MANE Select	ENSP00000162749.2:p.Leu196_Gly204del
ENST00000162749.6:c.586_612del	ENSP00000162749.2:p.Leu196_Gly204del
ENST00000534885.5:c.*63_*89del	ENSP00000441803.1:n.*63_*89del
ENST00000535038.1:n.256_282del
ENST00000536717.5:n.490_516del
ENST00000537842.5:n.190_216del
ENST00000539372.5:c.586_612del	ENSP00000442059.1:p.Leu196_Gly204del
ENST00000540022.5:c.457_483del	ENSP00000438343.1:p.Leu153_Gly161del
ENST00000543359.5:n.38-181_38-155del
ENST00000543995.5:c.*173_*199del	ENSP00000442405.1:n.*173_*199del
NM_001065.3:c.586_612del , LRG_193t1:c.586_612del	NP_001056.1:p.Leu196_Gly204del
NM_001346091.1:c.262_288del	NP_001333020.1:p.Leu88_Gly96del
NM_001346092.1:c.127_153del	NP_001333021.1:p.Leu43_Gly51del
NR_144351.1:n.855-181_855-155del
NM_001065.4:c.586_612del MANE Select	NP_001056.1:p.Leu196_Gly204del
NM_001346091.2:c.262_288del	NP_001333020.1:p.Leu88_Gly96del
NM_001346092.2:c.127_153del	NP_001333021.1:p.Leu43_Gly51del
NR_144351.2:n.814-181_814-155del