Canonical Allele Identifier: CA2685597771

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861290-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861293_150861294del , CM000669.2:g.150861293_150861294del	GRCh38
NC_000007.13:g.150558381_150558382del , CM000669.1:g.150558381_150558382del	GRCh37
NC_000007.12:g.150189314_150189315del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*84_*85del MANE Select	ENSP00000354193.4:n.*84_*85del
ENST00000360937.8:c.*84_*85del	ENSP00000354193.4:n.*84_*85del
ENST00000467291.5:c.*84_*85del	ENSP00000418328.1:n.*84_*85del
ENST00000493429.5:c.*84_*85del	ENSP00000418614.1:n.*84_*85del
XR_928169.1:n.295+15717_295+15718del
XR_928170.1:n.425+7324_425+7325del
XR_928171.1:n.297+15717_297+15718del
XR_928169.2:n.301+15717_301+15718del
XR_928171.2:n.301+15717_301+15718del
NM_001091.4:c.*84_*85del MANE Select	NP_001082.2:n.*84_*85del
NM_001272072.2:c.*84_*85del	NP_001259001.1:n.*84_*85del