Canonical Allele Identifier: CA539149429

Gene: CTLA4

Linked Data

• dbSNP Id: rs1356627124
• gnomAD v2: 2-204736021-C-CT
• gnomAD v3: 2-203871298-C-CT
• gnomAD v4: 2-203871298-C-CT
• MyVariant Identifiers: chr2:g.204736021_204736022insT (hg19) ; chr2:g.203871298_203871299insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871304dup , CM000664.2:g.203871304dup	GRCh38
NC_000002.11:g.204736027dup , CM000664.1:g.204736027dup	GRCh37
NC_000002.10:g.204444272dup	NCBI36
NG_011502.1:g.8519dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.458-74dup	ENSP00000512353.1:n.458-74dup
ENST00000696479.1:c.530-74dup	ENSP00000512655.1:n.530-74dup
ENST00000427473.3:n.491+371dup
ENST00000648405.2:c.458-74dup MANE Select	ENSP00000497102.1:n.458-74dup
ENST00000650075.1:n.482-74dup
ENST00000295854.10:c.457+371dup	ENSP00000295854.6:n.457+371dup
ENST00000302823.7:c.458-74dup	ENSP00000303939.3:n.458-74dup
ENST00000427473.2:c.346+371dup	ENSP00000409707.2:n.346+371dup
ENST00000472206.1:c.172+656dup	ENSP00000417779.1:n.172+656dup
ENST00000487393.1:n.110-1404dup
NM_001037631.2:c.457+371dup	NP_001032720.1:n.457+371dup
NM_005214.4:c.458-74dup	NP_005205.2:n.458-74dup
XR_241294.1:n.598-74dup
NM_001037631.3:c.457+371dup	NP_001032720.1:n.457+371dup
NM_005214.5:c.458-74dup MANE Select	NP_005205.2:n.458-74dup