Canonical Allele Identifier: CA127845
Gene: ADRA2C HGNC NCBI
ClinVar RCV:
RCV000019790
ClinVar Variation:
18160
dbSNP:
61767072
gnomAD v2:
4:3769295 AGGGGGCGGGGCC / A
gnomAD v3:
4:3767568 AGGGGGCGGGGCC / A
gnomAD v4:
chr4-3767568-AGGGGGCGGGGCC-A
Joint Max Group AF 0.41934558 (AFR)
Genomes Max Group AF 0.4031014 (AFR)
Exomes Max Group AF 0.44652897 (AFR)
MyVariant.info:
GRCh38 chr4:g.3767570_3767581del
GRCh38 chr4:g.3767569_3767580del
GRCh37 chr4:g.3769297_3769308del
GRCh37 chr4:g.3769296_3769307del
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3767577_3767588del , CM000666.2:g.3767577_3767588del GRCh38
NC_000004.11:g.3769304_3769315del , CM000666.1:g.3769304_3769315del GRCh37
NC_000004.10:g.3739102_3739113del NCBI36
NG_012640.1:g.6009_6020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330055.7:c.971_982del MANE Select ENSP00000386069.2:p.Gly324_Ala327del
ENST00000330055.6:c.971_982del ENSP00000386069.2:p.Gly324_Ala327del
ENST00000509482.1:c.971_982del ENSP00000426268.1:p.Gly324_Ala327del
NM_000683.3:c.971_982del NP_000674.2:p.Gly324_Ala327del
NM_000683.4:c.971_982del MANE Select NP_000674.2:p.Gly324_Ala327del
Search 100 bp 5'
Search 100 bp 3'