Canonical Allele Identifier: CA835197416

Gene: AOC1

Linked Data

• dbSNP Id: rs1269091139
• gnomAD v3: 7-150846466-CCA-C
• gnomAD v4: 7-150846466-CCA-C
• MyVariant Identifiers: chr7:g.150543555_150543556del (hg19) ; chr7:g.150846467_150846468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150846468_150846469del , CM000669.2:g.150846468_150846469del	GRCh38
NC_000007.13:g.150543556_150543557del , CM000669.1:g.150543556_150543557del	GRCh37
NC_000007.12:g.150174489_150174490del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467291.5:c.-92-5647_-92-5646del	ENSP00000418328.1:n.-92-5647_-92-5646del
ENST00000493429.5:c.-92-5647_-92-5646del	ENSP00000418614.1:n.-92-5647_-92-5646del
XM_011516008.1:c.-181-5647_-181-5646del	XP_011514310.1:n.-181-5647_-181-5646del
XM_011516009.1:c.-92-5647_-92-5646del	XP_011514311.1:n.-92-5647_-92-5646del
XR_928169.1:n.296-5023_296-5022del
XR_928170.1:n.426-5023_426-5022del
XR_928171.1:n.298-5023_298-5022del
XM_017011944.1:c.-92-5647_-92-5646del	XP_016867433.1:n.-92-5647_-92-5646del
XM_017011945.1:c.-92-5647_-92-5646del	XP_016867434.1:n.-92-5647_-92-5646del
XR_928169.2:n.302-5023_302-5022del
XR_928171.2:n.302-5023_302-5022del