Canonical Allele Identifier: CA135105515

Gene: CD83

Linked Data

• dbSNP Id: rs993821903
• gnomAD v2: 6-14134081-GGT-G
• gnomAD v3: 6-14133850-GGT-G
• gnomAD v4: 6-14133850-GGT-G
• MyVariant Identifiers: chr6:g.14134082_14134083del (hg19) ; chr6:g.14133851_14133852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.14133852_14133853del , CM000668.2:g.14133852_14133853del	GRCh38
NC_000006.11:g.14134083_14134084del , CM000668.1:g.14134083_14134084del	GRCh37
NC_000006.10:g.14242062_14242063del	NCBI36
NG_030372.1:g.21597_21598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379153.4:c.489+97_489+98del MANE Select	ENSP00000368450.3:n.489+97_489+98del
ENST00000379153.3:c.489+97_489+98del	ENSP00000368450.3:n.489+97_489+98del
ENST00000612003.4:c.312+97_312+98del	ENSP00000480760.1:n.312+97_312+98del
NM_001040280.1:c.489+97_489+98del	NP_001035370.1:n.489+97_489+98del
NM_001251901.1:c.312+97_312+98del	NP_001238830.1:n.312+97_312+98del
NM_004233.3:c.489+97_489+98del	NP_004224.1:n.489+97_489+98del
NM_004233.4:c.489+97_489+98del MANE Select	NP_004224.1:n.489+97_489+98del
NM_001040280.2:c.489+97_489+98del	NP_001035370.1:n.489+97_489+98del
NM_001040280.3:c.489+97_489+98del	NP_001035370.1:n.489+97_489+98del