Canonical Allele Identifier: CA2586971182
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203871451_203871464del , CM000664.2:g.203871451_203871464del GRCh38
NC_000002.11:g.204736174_204736187del , CM000664.1:g.204736174_204736187del GRCh37
NC_000002.10:g.204444419_204444432del NCBI36
NG_011502.1:g.8666_8679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696049.1:c.507+24_507+37del ENSP00000512353.1:n.507+24_507+37del
ENST00000696479.1:c.603_616del ENSP00000512655.1:p.Phe203CysfsTer?
ENST00000427473.3:n.491+518_491+531del
ENST00000648405.2:c.531_544del MANE Select ENSP00000497102.1:p.Phe179CysfsTer?
ENST00000650075.1:n.555_568del
ENST00000295854.10:c.457+518_457+531del ENSP00000295854.6:n.457+518_457+531del
ENST00000302823.7:c.531_544del ENSP00000303939.3:p.Phe179CysfsTer?
ENST00000427473.2:c.346+518_346+531del ENSP00000409707.2:n.346+518_346+531del
ENST00000472206.1:c.172+803_172+816del ENSP00000417779.1:n.172+803_172+816del
ENST00000487393.1:n.110-1257_110-1244del
NM_001037631.2:c.457+518_457+531del NP_001032720.1:n.457+518_457+531del
NM_005214.4:c.531_544del NP_005205.2:p.Phe179CysfsTer?
XR_241294.1:n.671_684del
NM_001037631.3:c.457+518_457+531del NP_001032720.1:n.457+518_457+531del
NM_005214.5:c.531_544del MANE Select NP_005205.2:p.Phe179CysfsTer?