Canonical Allele Identifier: CA8414070

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 322029
• ClinVar RCV Id: RCV000380683 ; RCV000520212 ; RCV000557905 ; RCV002283475 ; RCV002460349 ; RCV003224262 ; RCV003422282 ; RCV003995848
• dbSNP Id: rs72553875
• ExAC: 17:16852292 G / GT
• gnomAD v2: 17-16852292-G-GT
• gnomAD v3: 17-16948978-G-GT
• gnomAD v4: 17-16948978-G-GT
• MyVariant Identifiers: chr17:g.16852293dupT (hg19) ; chr17:g.16852292_16852293insT (hg19) ; chr17:g.16948979dupT (hg38) ; chr17:g.16948978_16948979insT (hg38)
• PubMed: PMID:16007086 ; PMID:18981294 ; PMID:21547394 ; PMID:22884984 ; PMID:23956760 ; PMID:27123465

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16948979dup , CM000679.2:g.16948979dup	GRCh38
NC_000017.10:g.16852293dup , CM000679.1:g.16852293dup	GRCh37
NC_000017.9:g.16793018dup	NCBI36
NG_007281.1:g.28110dup , LRG_120:g.28110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.204dup MANE Select	ENSP00000261652.2:p.Leu69ThrfsTer12
ENST00000261652.6:c.204dup	ENSP00000261652.2:p.Leu69ThrfsTer12
ENST00000579315.5:c.204dup	ENSP00000464069.1:p.Leu69ThrfsTer12
ENST00000581616.2:n.207dup
ENST00000582931.5:n.108dup
ENST00000583789.1:c.66dup	ENSP00000462952.1:p.Leu23ThrfsTer12
ENST00000584950.5:c.66dup	ENSP00000463582.1:p.Leu23ThrfsTer12
NM_012452.2:c.204dup , LRG_120t1:c.204dup	NP_036584.1:p.Leu69ThrfsTer12
NM_012452.3:c.204dup MANE Select	NP_036584.1:p.Leu69ThrfsTer12