Canonical Allele Identifier: CA1108694861

Gene: AOC1

Linked Data

• gnomAD v3: 7-150861389-TGCACACACACACAGACGTGCACACACACAGACGTGCAC-T
• gnomAD v4: 7-150861389-TGCACACACACACAGACGTGCACACACACAGACGTGCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861394_150861431del , CM000669.2:g.150861394_150861431del	GRCh38
NC_000007.13:g.150558482_150558519del , CM000669.1:g.150558482_150558519del	GRCh37
NC_000007.12:g.150189415_150189452del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*185_*222del MANE Select	ENSP00000354193.4:n.*185_*222del
ENST00000360937.8:c.*185_*222del	ENSP00000354193.4:n.*185_*222del
ENST00000467291.5:c.*185_*222del	ENSP00000418328.1:n.*185_*222del
ENST00000493429.5:c.*185_*222del	ENSP00000418614.1:n.*185_*222del
XR_928169.1:n.295+15582_295+15619del
XR_928170.1:n.425+7189_425+7226del
XR_928171.1:n.297+15582_297+15619del
XR_928169.2:n.301+15582_301+15619del
XR_928171.2:n.301+15582_301+15619del
NM_001091.4:c.*185_*222del MANE Select	NP_001082.2:n.*185_*222del
NM_001272072.2:c.*185_*222del	NP_001259001.1:n.*185_*222del