Canonical Allele Identifier: CA1052295277

Gene: BTLA

Linked Data

• dbSNP Id: rs2082224543
• gnomAD v3: 3-112466105-GACTTA-G
• gnomAD v4: 3-112466105-GACTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466109_112466113del , CM000665.2:g.112466109_112466113del	GRCh38
NC_000003.11:g.112184956_112184960del , CM000665.1:g.112184956_112184960del	GRCh37
NC_000003.10:g.113667646_113667650del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.868_*2del MANE Select	ENSP00000333919.5:n.[c.868_*2del;Ter290LeuextTer11]
ENST00000334529.9:c.868_*2del	ENSP00000333919.5:n.[c.868_*2del;Ter290LeuextTer11]
ENST00000474965.1:n.372_376del
NM_001085357.1:c.724_*2del	NP_001078826.1:n.[c.724_*2del;Ter242LeuextTer11]
NM_181780.3:c.868_*2del	NP_861445.3:n.[c.868_*2del;Ter290LeuextTer11]
XM_011512446.1:c.886_*2del	XP_011510748.1:n.[c.886_*2del;Ter296LeuextTer11]
XM_011512447.1:c.886_*2del	XP_011510749.1:n.[c.886_*2del;Ter296LeuextTer11]
XM_011512447.3:c.886_*2del	XP_011510749.1:n.[c.886_*2del;Ter296LeuextTer11]
XM_017005748.2:c.868_*2del	XP_016861237.1:n.[c.868_*2del;Ter290LeuextTer11]
NM_181780.4:c.868_*2del MANE Select	NP_861445.4:n.[c.868_*2del;Ter290LeuextTer11]
NM_001085357.2:c.724_*2del	NP_001078826.1:n.[c.724_*2del;Ter242LeuextTer11]