Canonical Allele Identifier: CA1139657636

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 871303
• ClinVar RCV Id: RCV001091185
• dbSNP Id: rs1688730155

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871407del , CM000664.2:g.203871407del	GRCh38
NC_000002.11:g.204736130del , CM000664.1:g.204736130del	GRCh37
NC_000002.10:g.204444375del	NCBI36
NG_011502.1:g.8622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.487del	ENSP00000512353.1:p.Leu163SerfsTer8
ENST00000696479.1:c.559del	ENSP00000512655.1:p.Leu187SerfsTer24
ENST00000427473.3:n.491+474del
ENST00000648405.2:c.487del MANE Select	ENSP00000497102.1:p.Leu163SerfsTer24
ENST00000650075.1:n.511del
ENST00000295854.10:c.457+474del	ENSP00000295854.6:n.457+474del
ENST00000302823.7:c.487del	ENSP00000303939.3:p.Leu163SerfsTer24
ENST00000427473.2:c.346+474del	ENSP00000409707.2:n.346+474del
ENST00000472206.1:c.172+759del	ENSP00000417779.1:n.172+759del
ENST00000487393.1:n.110-1301del
NM_001037631.2:c.457+474del	NP_001032720.1:n.457+474del
NM_005214.4:c.487del	NP_005205.2:p.Leu163SerfsTer24
XR_241294.1:n.627del
NM_001037631.3:c.457+474del	NP_001032720.1:n.457+474del
NM_005214.5:c.487del MANE Select	NP_005205.2:p.Leu163SerfsTer24