Canonical Allele Identifier: CA763554567

Gene: CTLA4

Linked Data

• dbSNP Id: rs1385061573
• gnomAD v3: 2-203871190-T-TTGATA
• gnomAD v4: 2-203871190-T-TTGATA
• MyVariant Identifiers: chr2:g.204735913_204735914insTGATA (hg19) ; chr2:g.203871190_203871191insTGATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871200_203871204dup , CM000664.2:g.203871200_203871204dup	GRCh38
NC_000002.11:g.204735923_204735927dup , CM000664.1:g.204735923_204735927dup	GRCh37
NC_000002.10:g.204444168_204444172dup	NCBI36
NG_011502.1:g.8415_8419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.458-178_458-174dup	ENSP00000512353.1:n.458-178_458-174dup
ENST00000696479.1:c.530-178_530-174dup	ENSP00000512655.1:n.530-178_530-174dup
ENST00000427473.3:n.491+267_491+271dup
ENST00000648405.2:c.458-178_458-174dup MANE Select	ENSP00000497102.1:n.458-178_458-174dup
ENST00000650075.1:n.482-178_482-174dup
ENST00000295854.10:c.457+267_457+271dup	ENSP00000295854.6:n.457+267_457+271dup
ENST00000302823.7:c.458-178_458-174dup	ENSP00000303939.3:n.458-178_458-174dup
ENST00000427473.2:c.346+267_346+271dup	ENSP00000409707.2:n.346+267_346+271dup
ENST00000472206.1:c.172+552_172+556dup	ENSP00000417779.1:n.172+552_172+556dup
ENST00000487393.1:n.110-1508_110-1504dup
NM_001037631.2:c.457+267_457+271dup	NP_001032720.1:n.457+267_457+271dup
NM_005214.4:c.458-178_458-174dup	NP_005205.2:n.458-178_458-174dup
XR_241294.1:n.598-178_598-174dup
NM_001037631.3:c.457+267_457+271dup	NP_001032720.1:n.457+267_457+271dup
NM_005214.5:c.458-178_458-174dup MANE Select	NP_005205.2:n.458-178_458-174dup