Canonical Allele Identifier: CA10602392

Gene: TNFRSF11A

Linked Data

• ClinVar Variation Id: 208143
• ClinVar RCV Id: RCV000190351 ; RCV000660386 ; RCV001852524
• dbSNP Id: rs886037749
• MyVariant Identifiers: chr18:g.59992630_59992647dup18 (hg19) ; chr18:g.62325397_62325414dup18 (hg38)
• PubMed: PMID:12568416 ; PMID:17447113

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.62325397_62325414dup , CM000680.2:g.62325397_62325414dup	GRCh38
NC_000018.9:g.59992630_59992647dup , CM000680.1:g.59992630_59992647dup	GRCh37
NC_000018.8:g.58143610_58143627dup	NCBI36
NG_008098.1:g.5083_5100dup , LRG_194:g.5083_5100dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000586569.3:c.45_62dup MANE Select	ENSP00000465500.1:p.Leu21_Ala22insLeuLeuC...
ENST00000639222.1:c.45_62dup	ENSP00000492422.1:p.Leu21_Ala22insLeuLeuC...
ENST00000269485.11:c.45_62dup	ENSP00000269485.7:p.Leu21_Ala22insLeuLeuC...
ENST00000586569.2:c.45_62dup	ENSP00000465500.1:p.Leu21_Ala22insLeuLeuC...
ENST00000592013.1:n.72_89dup
ENST00000616710.4:c.45_62dup	ENSP00000479567.1:p.Leu21_Ala22insLeuLeuC...
ENST00000617039.4:c.45_62dup	ENSP00000482466.1:p.Leu21_Ala22insLeuLeuC...
NM_001270949.1:c.45_62dup	NP_001257878.1:p.Leu21_Ala22insLeuLeuCysA...
NM_001270950.1:c.45_62dup	NP_001257879.1:p.Leu21_Ala22insLeuLeuCysA...
NM_001270951.1:c.45_62dup	NP_001257880.1:p.Leu21_Ala22insLeuLeuCysA...
NM_001278268.1:c.45_62dup	NP_001265197.1:p.Leu21_Ala22insLeuLeuCysA...
NM_003839.3:c.45_62dup	NP_003830.1:p.Leu21_Ala22insLeuLeuCysAlaL...
XM_011526244.1:c.45_62dup	XP_011524546.1:p.Leu21_Ala22insLeuLeuCysA...
XM_011526245.1:c.-148_-131dup	XP_011524547.1:n.-148_-131dup
XR_935263.1:n.60_77dup
XM_011526244.2:c.45_62dup	XP_011524546.1:p.Leu21_Ala22insLeuLeuCysA...
XM_011526245.2:c.-148_-131dup	XP_011524547.1:n.-148_-131dup
NM_003839.4:c.45_62dup MANE Select	NP_003830.1:p.Leu21_Ala22insLeuLeuCysAlaL...
NM_001270951.2:c.45_62dup	NP_001257880.1:p.Leu21_Ala22insLeuLeuCysA...
NM_001278268.2:c.45_62dup	NP_001265197.1:p.Leu21_Ala22insLeuLeuCysA...
NM_001270949.2:c.45_62dup	NP_001257878.1:p.Leu21_Ala22insLeuLeuCysA...
NM_001270950.2:c.45_62dup	NP_001257879.1:p.Leu21_Ala22insLeuLeuCysA...