Canonical Allele Identifier: CA539141228

Gene: CD28

Linked Data

• dbSNP Id: rs1167087647
• gnomAD v2: 2-204572030-TAAACTCTCC-T
• gnomAD v3: 2-203707307-TAAACTCTCC-T
• gnomAD v4: 2-203707307-TAAACTCTCC-T
• MyVariant Identifiers: chr2:g.204572031_204572039del (hg19) ; chr2:g.203707308_203707316del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203707312_203707320del , CM000664.2:g.203707312_203707320del	GRCh38
NC_000002.11:g.204572035_204572043del , CM000664.1:g.204572035_204572043del	GRCh37
NC_000002.10:g.204280280_204280288del	NCBI36
NG_029618.1:g.5838_5846del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324106.9:c.52+564_52+572del MANE Select	ENSP00000324890.7:n.52+564_52+572del
ENST00000324106.8:c.52+564_52+572del	ENSP00000324890.7:n.52+564_52+572del
ENST00000374481.7:c.52+564_52+572del	ENSP00000363605.4:n.52+564_52+572del
ENST00000458610.6:c.94+695_94+703del	ENSP00000393648.2:n.94+695_94+703del
NM_001243077.1:c.52+564_52+572del	NP_001230006.1:n.52+564_52+572del
NM_001243078.1:c.52+564_52+572del	NP_001230007.1:n.52+564_52+572del
NM_006139.3:c.52+564_52+572del	NP_006130.1:n.52+564_52+572del
XM_006712862.2:c.94+695_94+703del	XP_006712925.1:n.94+695_94+703del
XM_011512194.1:c.94+695_94+703del	XP_011510496.1:n.94+695_94+703del
XM_011512195.1:c.94+695_94+703del	XP_011510497.1:n.94+695_94+703del
XM_011512196.1:c.94+695_94+703del	XP_011510498.1:n.94+695_94+703del
XM_011512197.1:c.52+564_52+572del	XP_011510499.1:n.52+564_52+572del
XM_011512194.2:c.94+695_94+703del	XP_011510496.1:n.94+695_94+703del
XM_011512195.3:c.94+695_94+703del	XP_011510497.1:n.94+695_94+703del
XM_011512197.2:c.52+564_52+572del	XP_011510499.1:n.52+564_52+572del
NM_006139.4:c.52+564_52+572del MANE Select	NP_006130.1:n.52+564_52+572del
NM_001243077.2:c.52+564_52+572del	NP_001230006.1:n.52+564_52+572del
NM_001243078.2:c.52+564_52+572del	NP_001230007.1:n.52+564_52+572del