Canonical Allele Identifier: CA2685597539

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861184-A-ACAATGGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861191_150861192insTTCAATGGG , CM000669.2:g.150861191_150861192insTTCAATGGG	GRCh38
NC_000007.13:g.150558279_150558280insTTCAATGGG , CM000669.1:g.150558279_150558280insTTCAATGGG	GRCh37
NC_000007.12:g.150189212_150189213insTTCAATGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2238_2239insTTCAATGGG MANE Select	ENSP00000354193.4:p.Gly746_Thr747insPheAsnGly
ENST00000360937.8:c.2238_2239insTTCAATGGG	ENSP00000354193.4:p.Gly746_Thr747insPheAsnGly
ENST00000416793.6:c.2295_2296insTTCAATGGG	ENSP00000411613.2:p.Gly765_Thr766insPheAsnGly
ENST00000467291.5:c.2238_2239insTTCAATGGG	ENSP00000418328.1:p.Gly746_Thr747insPheAsnGly
ENST00000480582.1:n.915_916insTTCAATGGG
ENST00000493429.5:c.2238_2239insTTCAATGGG	ENSP00000418614.1:p.Gly746_Thr747insPheAsnGly
ENST00000619575.1:c.*95_*96insTTCAATGGG	ENSP00000481717.1:n.*95_*96insTTCAATGGG
ENST00000622116.4:c.*230_*231insTTCAATGGG	ENSP00000481520.1:n.*230_*231insTTCAATGGG
NM_001091.3:c.2238_2239insTTCAATGGG	NP_001082.2:p.Gly746_Thr747insPheAsnGly
NM_001272072.1:c.2295_2296insTTCAATGGG	NP_001259001.1:p.Gly765_Thr766insPheAsnGly
XM_011516008.1:c.2295_2296insTTCAATGGG	XP_011514310.1:p.Gly765_Thr766insPheAsnGly
XM_011516009.1:c.2238_2239insTTCAATGGG	XP_011514311.1:p.Gly746_Thr747insPheAsnGly
XR_928169.1:n.295+15824_295+15825insAACCCATTG
XR_928170.1:n.425+7431_425+7432insAACCCATTG
XR_928171.1:n.297+15824_297+15825insAACCCATTG
XM_017011944.1:c.2295_2296insTTCAATGGG	XP_016867433.1:p.Gly765_Thr766insPheAsnGly
XM_017011945.1:c.2295_2296insTTCAATGGG	XP_016867434.1:p.Gly765_Thr766insPheAsnGly
XM_017011946.2:c.2295_2296insTTCAATGGG	XP_016867435.1:p.Gly765_Thr766insPheAsnGly
XM_017011947.1:c.2238_2239insTTCAATGGG	XP_016867436.1:p.Gly746_Thr747insPheAsnGly
XR_928169.2:n.301+15824_301+15825insAACCCATTG
XR_928171.2:n.301+15824_301+15825insAACCCATTG
NM_001091.4:c.2238_2239insTTCAATGGG MANE Select	NP_001082.2:p.Gly746_Thr747insPheAsnGly
NM_001272072.2:c.2295_2296insTTCAATGGG	NP_001259001.1:p.Gly765_Thr766insPheAsnGly