Canonical Allele Identifier: CA2695218788

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950057_51950058insA , CM000675.2:g.51950057_51950058insA	GRCh38
NC_000013.10:g.52524193_52524194insA , CM000675.1:g.52524193_52524194insA	GRCh37
NC_000013.9:g.51422194_51422195insA	NCBI36
NG_008806.1:g.66437_66438insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*512_*513insT	ENSP00000489512.2:n.*512_*513insT
ENST00000673864.2:c.*1423_*1424insT	ENSP00000501045.2:n.*1423_*1424insT
ENST00000674147.2:c.2193_2194insT	ENSP00000500964.2:p.Thr732TyrfsTer?
ENST00000242839.10:c.2679_2680insT MANE Select	ENSP00000242839.5:p.Thr894TyrfsTer25
ENST00000344297.9:c.2193_2194insT	ENSP00000342559.5:p.Thr732TyrfsTer?
ENST00000400366.6:c.2346_2347insT	ENSP00000383217.3:p.Thr783TyrfsTer25
ENST00000448424.7:c.2427_2428insT	ENSP00000416738.3:p.Thr810TyrfsTer25
ENST00000673772.1:c.2445_2446insT	ENSP00000501168.1:p.Thr816TyrfsTer25
ENST00000674147.1:c.1749_1750insT	ENSP00000500964.1:p.Thr584TyrfsTer?
ENST00000242839.8:c.2679_2680insT	ENSP00000242839.4:p.Thr894TyrfsTer25
ENST00000344297.8:c.2193_2194insT	ENSP00000342559.5:p.Thr732TyrfsTer?
ENST00000400366.5:c.2346_2347insT	ENSP00000383217.3:p.Thr783TyrfsTer25
ENST00000400370.8:c.1389_1390insT	ENSP00000383221.3:p.Thr464TyrfsTer25
ENST00000418097.7:c.2679_2680insT	ENSP00000393343.2:p.Thr894TyrfsTer25
ENST00000448424.6:c.2445_2446insT	ENSP00000416738.2:p.Thr816TyrfsTer25
ENST00000634296.1:c.640_641insT
ENST00000634308.1:c.2445_2446insT	ENSP00000489234.1:p.Thr816TyrfsTer25
ENST00000634620.1:n.3477_3478insT
ENST00000634810.1:n.2024_2025insT
ENST00000634844.1:c.2535_2536insT	ENSP00000489398.1:p.Thr846TyrfsTer25
ENST00000635406.1:n.212-3580_212-3579insT
NM_000053.3:c.2679_2680insT	NP_000044.2:p.Thr894TyrfsTer25
NM_001005918.2:c.2193_2194insT	NP_001005918.1:p.Thr732TyrfsTer?
NM_001243182.1:c.2346_2347insT	NP_001230111.1:p.Thr783TyrfsTer25
XM_005266423.2:c.2583_2584insT	XP_005266480.1:p.Thr862TyrfsTer25
XM_005266424.3:c.2583_2584insT	XP_005266481.1:p.Thr862TyrfsTer25
XM_005266427.2:c.2445_2446insT	XP_005266484.1:p.Thr816TyrfsTer25
XM_005266428.1:c.2427_2428insT	XP_005266485.1:p.Thr810TyrfsTer25
XM_005266430.3:c.2679_2680insT	XP_005266487.1:p.Thr894TyrfsTer25
XM_005266431.2:c.2643_2644insT	XP_005266488.1:p.Thr882TyrfsTer25
XM_005266432.2:c.2193_2194insT	XP_005266489.1:p.Thr732TyrfsTer25
XM_006719837.2:c.2583_2584insT	XP_006719900.1:p.Thr862TyrfsTer25
XM_006719838.1:c.495_496insT	XP_006719901.1:p.Thr166TyrfsTer25
XM_006719839.1:c.495_496insT	XP_006719902.1:p.Thr166TyrfsTer25
XM_011535117.1:c.2583_2584insT	XP_011533419.1:p.Thr862TyrfsTer25
XM_011535118.1:c.2679_2680insT	XP_011533420.1:p.Thr894TyrfsTer?
XM_011535119.1:c.2679_2680insT	XP_011533421.1:p.Thr894TyrfsTer25
XM_011535120.1:c.2265_2266insT	XP_011533422.1:p.Thr756TyrfsTer25
XM_011535121.1:c.2679_2680insT	XP_011533423.1:p.Thr894TyrfsTer?
XM_011535122.1:c.1347_1348insT	XP_011533424.1:p.Thr450TyrfsTer25
XR_941601.1:n.2898_2899insT
XR_941602.1:n.2898_2899insT
XR_941603.1:n.2898_2899insT
XR_941604.1:n.2898_2899insT
NM_001330578.1:c.2445_2446insT	NP_001317507.1:p.Thr816TyrfsTer25
NM_001330579.1:c.2427_2428insT	NP_001317508.1:p.Thr810TyrfsTer25
XM_005266424.4:c.2583_2584insT	XP_005266481.1:p.Thr862TyrfsTer25
XM_005266430.4:c.2679_2680insT	XP_005266487.1:p.Thr894TyrfsTer25
XM_005266431.4:c.2643_2644insT	XP_005266488.1:p.Thr882TyrfsTer25
XM_006719837.3:c.2583_2584insT	XP_006719900.1:p.Thr862TyrfsTer25
XM_011535117.3:c.2583_2584insT	XP_011533419.1:p.Thr862TyrfsTer25
XM_017020627.1:c.2583_2584insT	XP_016876116.1:p.Thr862TyrfsTer25
NM_000053.4:c.2679_2680insT MANE Select	NP_000044.2:p.Thr894TyrfsTer25
NM_001005918.3:c.2193_2194insT	NP_001005918.1:p.Thr732TyrfsTer?
NM_001330579.2:c.2427_2428insT	NP_001317508.1:p.Thr810TyrfsTer25
NM_001243182.2:c.2346_2347insT	NP_001230111.1:p.Thr783TyrfsTer25
NM_001330578.2:c.2445_2446insT	NP_001317507.1:p.Thr816TyrfsTer25