Canonical Allele Identifier: CA603109483

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1366990217
• gnomAD v2: 12-6442292-A-ACGGTGTTCTGTTTCTCCTG
• gnomAD v4: 12-6333126-A-ACGGTGTTCTGTTTCTCCTG
• MyVariant Identifiers: chr12:g.6442292_6442293insCGGTGTTCTGTTTCTCCTG (hg19) ; chr12:g.6333126_6333127insCGGTGTTCTGTTTCTCCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333127_6333145dup , CM000674.2:g.6333127_6333145dup	GRCh38
NC_000012.11:g.6442293_6442311dup , CM000674.1:g.6442293_6442311dup	GRCh37
NC_000012.10:g.6312554_6312572dup	NCBI36
NG_007506.1:g.13951_13969dup , LRG_193:g.13951_13969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.509_527dup
ENST00000437813.8:c.475_493dup	ENSP00000513672.1:p.Val165AlafsTer25
ENST00000440083.7:c.694_712dup	ENSP00000413224.3:p.Val238AlafsTer25
ENST00000535958.2:c.*302_*320dup	ENSP00000513673.1:n.*302_*320dup
ENST00000698339.1:c.475_493dup	ENSP00000513670.1:p.Val165AlafsTer25
ENST00000698340.1:c.475_493dup	ENSP00000513671.1:p.Val165AlafsTer25
ENST00000162749.7:c.475_493dup MANE Select	ENSP00000162749.2:p.Val165AlafsTer25
ENST00000162749.6:c.475_493dup	ENSP00000162749.2:p.Val165AlafsTer25
ENST00000366159.8:c.475_493dup	ENSP00000380389.3:p.Val165AlafsTer25
ENST00000437813.7:n.436_454dup
ENST00000440083.6:c.694_712dup	ENSP00000413224.2:p.Val238AlafsTer?
ENST00000534885.5:c.321_339dup	ENSP00000441803.1:p.Cys114GlnfsTer?
ENST00000537842.5:n.79_97dup
ENST00000539372.5:c.475_493dup	ENSP00000442059.1:p.Val165AlafsTer25
ENST00000540022.5:c.346_364dup	ENSP00000438343.1:p.Val122AlafsTer25
ENST00000543048.5:c.*86_*104dup	ENSP00000439981.1:n.*86_*104dup
ENST00000543995.5:c.*62_*80dup	ENSP00000442405.1:n.*62_*80dup
NM_001065.3:c.475_493dup , LRG_193t1:c.475_493dup	NP_001056.1:p.Val165AlafsTer25
NM_001346091.1:c.151_169dup	NP_001333020.1:p.Val57AlafsTer25
NM_001346092.1:c.-103_-85dup	NP_001333021.1:n.-103_-85dup
NR_144351.1:n.778_796dup
NM_001065.4:c.475_493dup MANE Select	NP_001056.1:p.Val165AlafsTer25
NM_001346091.2:c.151_169dup	NP_001333020.1:p.Val57AlafsTer25
NM_001346092.2:c.-103_-85dup	NP_001333021.1:n.-103_-85dup
NR_144351.2:n.737_755dup