Canonical Allele Identifier: CA1086183371

Gene: CD83

Linked Data

• dbSNP Id: rs1757982948
• gnomAD v3: 6-14133852-T-TGA
• gnomAD v4: 6-14133852-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.14133859_14133860dup , CM000668.2:g.14133859_14133860dup	GRCh38
NC_000006.11:g.14134090_14134091dup , CM000668.1:g.14134090_14134091dup	GRCh37
NC_000006.10:g.14242069_14242070dup	NCBI36
NG_030372.1:g.21604_21605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379153.4:c.489+104_489+105dup MANE Select	ENSP00000368450.3:n.489+104_489+105dup
ENST00000379153.3:c.489+104_489+105dup	ENSP00000368450.3:n.489+104_489+105dup
ENST00000612003.4:c.312+104_312+105dup	ENSP00000480760.1:n.312+104_312+105dup
NM_001040280.1:c.489+104_489+105dup	NP_001035370.1:n.489+104_489+105dup
NM_001251901.1:c.312+104_312+105dup	NP_001238830.1:n.312+104_312+105dup
NM_004233.3:c.489+104_489+105dup	NP_004224.1:n.489+104_489+105dup
NM_004233.4:c.489+104_489+105dup MANE Select	NP_004224.1:n.489+104_489+105dup
NM_001040280.2:c.489+104_489+105dup	NP_001035370.1:n.489+104_489+105dup
NM_001040280.3:c.489+104_489+105dup	NP_001035370.1:n.489+104_489+105dup