Canonical Allele Identifier: CA2623116502

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944289-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944289_51944290insG , CM000675.2:g.51944289_51944290insG	GRCh38
NC_000013.10:g.52518425_52518426insG , CM000675.1:g.52518425_52518426insG	GRCh37
NC_000013.9:g.51416426_51416427insG	NCBI36
NG_008806.1:g.72205_72206insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1736_*894-1735insC	ENSP00000489512.2:n.*894-1736_*894-1735insC
ENST00000673864.2:c.*1806_*1807insC	ENSP00000501045.2:n.*1806_*1807insC
ENST00000674147.2:c.2441_2442insC	ENSP00000500964.2:p.Thr816AspfsTer5
ENST00000242839.10:c.3062_3063insC MANE Select	ENSP00000242839.5:p.Thr1023AspfsTer5
ENST00000344297.9:c.2441_2442insC	ENSP00000342559.5:p.Thr816AspfsTer5
ENST00000400366.6:c.2729_2730insC	ENSP00000383217.3:p.Thr912AspfsTer5
ENST00000448424.7:c.2810_2811insC	ENSP00000416738.3:p.Thr939AspfsTer5
ENST00000673772.1:c.2828_2829insC	ENSP00000501168.1:p.Thr945AspfsTer5
ENST00000673867.1:n.3201_3202insC
ENST00000674126.1:n.3425_3426insC
ENST00000674147.1:c.1997_1998insC	ENSP00000500964.1:p.Thr668AspfsTer5
ENST00000242839.8:c.3062_3063insC	ENSP00000242839.4:p.Thr1023AspfsTer5
ENST00000344297.8:c.2441_2442insC	ENSP00000342559.5:p.Thr816AspfsTer5
ENST00000400366.5:c.2729_2730insC	ENSP00000383217.3:p.Thr912AspfsTer5
ENST00000400370.8:c.1772_1773insC	ENSP00000383221.3:p.Thr593AspfsTer5
ENST00000418097.7:c.2867_2868insC	ENSP00000393343.2:p.Thr958AspfsTer5
ENST00000448424.6:c.2828_2829insC	ENSP00000416738.2:p.Thr945AspfsTer5
ENST00000466629.1:n.282_283insC
ENST00000634296.1:c.1022-1736_1022-1735insC
ENST00000634308.1:c.*163_*164insC	ENSP00000489234.1:n.*163_*164insC
ENST00000634620.1:n.3806_3807insC
ENST00000634810.1:n.2407_2408insC
ENST00000634844.1:c.2918_2919insC	ENSP00000489398.1:p.Thr975AspfsTer5
ENST00000635406.1:n.408_409insC
NM_000053.3:c.3062_3063insC	NP_000044.2:p.Thr1023AspfsTer5
NM_001005918.2:c.2441_2442insC	NP_001005918.1:p.Thr816AspfsTer5
NM_001243182.1:c.2729_2730insC	NP_001230111.1:p.Thr912AspfsTer5
XM_005266423.2:c.2966_2967insC	XP_005266480.1:p.Thr991AspfsTer5
XM_005266424.3:c.2966_2967insC	XP_005266481.1:p.Thr991AspfsTer5
XM_005266427.2:c.2828_2829insC	XP_005266484.1:p.Thr945AspfsTer5
XM_005266428.1:c.2810_2811insC	XP_005266485.1:p.Thr939AspfsTer5
XM_005266430.3:c.3062_3063insC	XP_005266487.1:p.Thr1023AspfsTer5
XM_005266431.2:c.3026_3027insC	XP_005266488.1:p.Thr1011AspfsTer5
XM_005266432.2:c.2576_2577insC	XP_005266489.1:p.Thr861AspfsTer5
XM_006719837.2:c.2966_2967insC	XP_006719900.1:p.Thr991AspfsTer5
XM_006719838.1:c.878_879insC	XP_006719901.1:p.Thr295AspfsTer5
XM_006719839.1:c.877-1736_877-1735insC	XP_006719902.1:n.877-1736_877-1735insC
XM_011535117.1:c.2966_2967insC	XP_011533419.1:p.Thr991AspfsTer5
XM_011535118.1:c.2927_2928insC	XP_011533420.1:p.Thr978AspfsTer5
XM_011535119.1:c.3061-1736_3061-1735insC	XP_011533421.1:n.3061-1736_3061-1735insC
XM_011535120.1:c.2648_2649insC	XP_011533422.1:p.Thr885AspfsTer5
XM_011535121.1:c.2731-1736_2731-1735insC	XP_011533423.1:n.2731-1736_2731-1735insC
XM_011535122.1:c.1730_1731insC	XP_011533424.1:p.Thr579AspfsTer5
XR_941601.1:n.3281_3282insC
XR_941602.1:n.3281_3282insC
XR_941603.1:n.3281_3282insC
XR_941604.1:n.3281_3282insC
NM_001330578.1:c.2828_2829insC	NP_001317507.1:p.Thr945AspfsTer5
NM_001330579.1:c.2810_2811insC	NP_001317508.1:p.Thr939AspfsTer5
XM_005266424.4:c.2966_2967insC	XP_005266481.1:p.Thr991AspfsTer5
XM_005266430.4:c.3062_3063insC	XP_005266487.1:p.Thr1023AspfsTer5
XM_005266431.4:c.3026_3027insC	XP_005266488.1:p.Thr1011AspfsTer5
XM_006719837.3:c.2966_2967insC	XP_006719900.1:p.Thr991AspfsTer5
XM_011535117.3:c.2966_2967insC	XP_011533419.1:p.Thr991AspfsTer5
XM_017020627.1:c.2966_2967insC	XP_016876116.1:p.Thr991AspfsTer5
NM_000053.4:c.3062_3063insC MANE Select	NP_000044.2:p.Thr1023AspfsTer5
NM_001005918.3:c.2441_2442insC	NP_001005918.1:p.Thr816AspfsTer5
NM_001330579.2:c.2810_2811insC	NP_001317508.1:p.Thr939AspfsTer5
NM_001243182.2:c.2729_2730insC	NP_001230111.1:p.Thr912AspfsTer5
NM_001330578.2:c.2828_2829insC	NP_001317507.1:p.Thr945AspfsTer5