Canonical Allele Identifier: CA2592402939

Gene: CD83

Linked Data

• gnomAD v3: 6-14133882-TTTTGAGG-T
• gnomAD v4: 6-14133882-TTTTGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.14133883_14133889del , CM000668.2:g.14133883_14133889del	GRCh38
NC_000006.11:g.14134114_14134120del , CM000668.1:g.14134114_14134120del	GRCh37
NC_000006.10:g.14242093_14242099del	NCBI36
NG_030372.1:g.21628_21634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379153.4:c.489+128_489+134del MANE Select	ENSP00000368450.3:n.489+128_489+134del
ENST00000379153.3:c.489+128_489+134del	ENSP00000368450.3:n.489+128_489+134del
ENST00000612003.4:c.312+128_312+134del	ENSP00000480760.1:n.312+128_312+134del
NM_001040280.1:c.489+128_489+134del	NP_001035370.1:n.489+128_489+134del
NM_001251901.1:c.312+128_312+134del	NP_001238830.1:n.312+128_312+134del
NM_004233.3:c.489+128_489+134del	NP_004224.1:n.489+128_489+134del
NM_004233.4:c.489+128_489+134del MANE Select	NP_004224.1:n.489+128_489+134del
NM_001040280.2:c.489+128_489+134del	NP_001035370.1:n.489+128_489+134del
NM_001040280.3:c.489+128_489+134del	NP_001035370.1:n.489+128_489+134del