Canonical Allele Identifier: CA625313748

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 657940
• ClinVar RCV Id: RCV000814655 ; RCV003908104
• dbSNP Id: rs1265262160
• gnomAD v2: 17-16852265-ACTTGC-A
• gnomAD v4: 17-16948951-ACTTGC-A
• MyVariant Identifiers: chr17:g.16852266_16852270del (hg19) ; chr17:g.16948952_16948956del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16948957_16948961del , CM000679.2:g.16948957_16948961del	GRCh38
NC_000017.10:g.16852271_16852275del , CM000679.1:g.16852271_16852275del	GRCh37
NC_000017.9:g.16792996_16793000del	NCBI36
NG_007281.1:g.28133_28137del , LRG_120:g.28133_28137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.227_231del MANE Select	ENSP00000261652.2:p.Gly76ValfsTer3
ENST00000261652.6:c.227_231del	ENSP00000261652.2:p.Gly76ValfsTer3
ENST00000579315.5:c.227_231del	ENSP00000464069.1:p.Gly76ValfsTer3
ENST00000581616.2:n.230_234del
ENST00000582931.5:n.131_135del
ENST00000583789.1:c.89_93del	ENSP00000462952.1:p.Gly30ValfsTer3
ENST00000584950.5:c.89_93del	ENSP00000463582.1:p.Gly30ValfsTer3
NM_012452.2:c.227_231del , LRG_120t1:c.227_231del	NP_036584.1:p.Gly76ValfsTer3
NM_012452.3:c.227_231del MANE Select	NP_036584.1:p.Gly76ValfsTer3