Canonical Allele Identifier: CA540837236

Linked Data

dbSNP Id: rs1268607271
gnomAD v2: 3-8813281-G-GA
gnomAD v3: 3-8771595-G-GA
gnomAD v4: 3-8771595-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8771603dup , CM000665.2:g.8771603dup GRCh38
NC_000003.11:g.8813289dup , CM000665.1:g.8813289dup GRCh37
NC_000003.10:g.8788289dup NCBI36
NG_008797.2:g.42794dup , LRG_329:g.42794dup

Transcript Alleles

HGVS Amino-acid change
ENST00000472766.1:n.156-5874dup (CAV3)
XM_011533763.1:c.-238-3005dup (OXTR) XP_011532065.1:n.-238-3005dup