Canonical Allele Identifier: CA280745

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97662
• ClinVar RCV Id: RCV000083915
• dbSNP Id: rs104895246
• MyVariant Identifiers: chr12:g.6443012_6443014del (hg19) ; chr12:g.6333846_6333848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333846_6333848del , CM000674.2:g.6333846_6333848del	GRCh38
NC_000012.11:g.6443012_6443014del , CM000674.1:g.6443012_6443014del	GRCh37
NC_000012.10:g.6313273_6313275del	NCBI36
NG_007506.1:g.13248_13250del , LRG_193:g.13248_13250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.245_247del
ENST00000437813.8:c.211_213del	ENSP00000513672.1:p.Asp71del
ENST00000440083.7:c.211_213del	ENSP00000413224.3:p.Asp71del
ENST00000535958.2:c.*38_*40del	ENSP00000513673.1:n.*38_*40del
ENST00000698339.1:c.211_213del	ENSP00000513670.1:p.Asp71del
ENST00000698340.1:c.211_213del	ENSP00000513671.1:p.Asp71del
ENST00000162749.7:c.211_213del MANE Select	ENSP00000162749.2:p.Asp71del
ENST00000162749.6:c.211_213del	ENSP00000162749.2:p.Asp71del
ENST00000366159.8:c.211_213del	ENSP00000380389.3:p.Asp71del
ENST00000437813.7:n.172_174del
ENST00000440083.6:c.211_213del	ENSP00000413224.2:p.Asp71del
ENST00000534885.5:c.57_59del	ENSP00000441803.1:p.Met19_Thr20delinsIle
ENST00000535958.1:n.457_459del
ENST00000536194.1:c.194-10_194-8del	ENSP00000442919.1:n.194-10_194-8del
ENST00000539372.5:c.211_213del	ENSP00000442059.1:p.Asp71del
ENST00000540022.5:c.193+243_193+245del	ENSP00000438343.1:n.193+243_193+245del
ENST00000543048.5:c.211_213del	ENSP00000439981.1:p.Asp71del
ENST00000543995.5:c.193+243_193+245del	ENSP00000442405.1:n.193+243_193+245del
NM_001065.3:c.211_213del , LRG_193t1:c.211_213del	NP_001056.1:p.Asp71del
NM_001346091.1:c.-114_-112del	NP_001333020.1:n.-114_-112del
NM_001346092.1:c.-367_-365del	NP_001333021.1:n.-367_-365del
NR_144351.1:n.514_516del
NM_001065.4:c.211_213del MANE Select	NP_001056.1:p.Asp71del
NM_001346091.2:c.-114_-112del	NP_001333020.1:n.-114_-112del
NM_001346092.2:c.-367_-365del	NP_001333021.1:n.-367_-365del
NR_144351.2:n.473_475del