Canonical Allele Identifier: CA579075170

Gene: AOC1

Linked Data

• dbSNP Id: rs1563101880
• gnomAD v2: 7-150558515-C-CACACACAGACGTGCAT
• gnomAD v3: 7-150861427-C-CACACACAGACGTGCAT
• gnomAD v4: 7-150861427-C-CACACACAGACGTGCAT
• MyVariant Identifiers: chr7:g.150558515_150558516insACACACAGACGTGCAT (hg19) ; chr7:g.150861427_150861428insACACACAGACGTGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861427_150861428insACACACAGACGTGCAT , CM000669.2:g.150861427_150861428insACACACAGACGTGCAT	GRCh38
NC_000007.13:g.150558515_150558516insACACACAGACGTGCAT , CM000669.1:g.150558515_150558516insACACACAGACGTGCAT	GRCh37
NC_000007.12:g.150189448_150189449insACACACAGACGTGCAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*218_*219insACACACAGACGTGCAT MANE Select	ENSP00000354193.4:n.*218_*219insACACACAGACGTGCAT
ENST00000360937.8:c.*218_*219insACACACAGACGTGCAT	ENSP00000354193.4:n.*218_*219insACACACAGACGTGCAT
ENST00000467291.5:c.*218_*219insACACACAGACGTGCAT	ENSP00000418328.1:n.*218_*219insACACACAGACGTGCAT
ENST00000493429.5:c.*218_*219insACACACAGACGTGCAT	ENSP00000418614.1:n.*218_*219insACACACAGACGTGCAT
XR_928169.1:n.295+15581_295+15582insATGCACGTCTGTGTGT
XR_928170.1:n.425+7188_425+7189insATGCACGTCTGTGTGT
XR_928171.1:n.297+15581_297+15582insATGCACGTCTGTGTGT
XR_928169.2:n.301+15581_301+15582insATGCACGTCTGTGTGT
XR_928171.2:n.301+15581_301+15582insATGCACGTCTGTGTGT
NM_001091.4:c.*218_*219insACACACAGACGTGCAT MANE Select	NP_001082.2:n.*218_*219insACACACAGACGTGCAT
NM_001272072.2:c.*218_*219insACACACAGACGTGCAT	NP_001259001.1:n.*218_*219insACACACAGACGTGCAT