Canonical Allele Identifier: CA2580087736

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1724405
• ClinVar RCV Id: RCV002309673

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941174_51941175del , CM000675.2:g.51941174_51941175del	GRCh38
NC_000013.10:g.52515310_52515311del , CM000675.1:g.52515310_52515311del	GRCh37
NC_000013.9:g.51413311_51413312del	NCBI36
NG_008806.1:g.75321_75322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1113_*1114del	ENSP00000489512.2:n.*1113_*1114del
ENST00000673864.2:c.*2207_*2208del	ENSP00000501045.2:n.*2207_*2208del
ENST00000674147.2:c.2842_2843del	ENSP00000500964.2:p.Arg948AlafsTer8
ENST00000242839.10:c.3463_3464del MANE Select	ENSP00000242839.5:p.Arg1155AlafsTer8
ENST00000344297.9:c.2842_2843del	ENSP00000342559.5:p.Arg948AlafsTer8
ENST00000400366.6:c.3130_3131del	ENSP00000383217.3:p.Arg1044AlafsTer8
ENST00000448424.7:c.3211_3212del	ENSP00000416738.3:p.Arg1071AlafsTer8
ENST00000673772.1:c.3229_3230del	ENSP00000501168.1:p.Arg1077AlafsTer8
ENST00000673867.1:n.3602_3603del
ENST00000674126.1:n.3826_3827del
ENST00000674147.1:c.2398_2399del	ENSP00000500964.1:p.Arg800AlafsTer8
ENST00000242839.8:c.3463_3464del	ENSP00000242839.4:p.Arg1155AlafsTer8
ENST00000344297.8:c.2842_2843del	ENSP00000342559.5:p.Arg948AlafsTer8
ENST00000400366.5:c.3130_3131del	ENSP00000383217.3:p.Arg1044AlafsTer8
ENST00000400370.8:c.2173_2174del	ENSP00000383221.3:p.Arg725AlafsTer8
ENST00000418097.7:c.3268_3269del	ENSP00000393343.2:p.Arg1090AlafsTer8
ENST00000448424.6:c.3229_3230del	ENSP00000416738.2:p.Arg1077AlafsTer8
ENST00000634296.1:c.1241_1242del
ENST00000634308.1:c.*564_*565del	ENSP00000489234.1:n.*564_*565del
ENST00000634620.1:n.4207_4208del
ENST00000634810.1:n.2808_2809del
ENST00000634844.1:c.3319_3320del	ENSP00000489398.1:p.Arg1107AlafsTer8
NM_000053.3:c.3463_3464del	NP_000044.2:p.Arg1155AlafsTer8
NM_001005918.2:c.2842_2843del	NP_001005918.1:p.Arg948AlafsTer8
NM_001243182.1:c.3130_3131del	NP_001230111.1:p.Arg1044AlafsTer8
XM_005266423.2:c.3367_3368del	XP_005266480.1:p.Arg1123AlafsTer8
XM_005266424.3:c.3367_3368del	XP_005266481.1:p.Arg1123AlafsTer8
XM_005266427.2:c.3229_3230del	XP_005266484.1:p.Arg1077AlafsTer8
XM_005266428.1:c.3211_3212del	XP_005266485.1:p.Arg1071AlafsTer8
XM_005266430.3:c.3463_3464del	XP_005266487.1:p.Arg1155AlafsTer8
XM_005266431.2:c.3427_3428del	XP_005266488.1:p.Arg1143AlafsTer8
XM_005266432.2:c.2977_2978del	XP_005266489.1:p.Arg993AlafsTer8
XM_006719837.2:c.3367_3368del	XP_006719900.1:p.Arg1123AlafsTer8
XM_006719838.1:c.1279_1280del	XP_006719901.1:p.Arg427AlafsTer8
XM_006719839.1:c.1096_1097del	XP_006719902.1:p.Arg366AlafsTer8
XM_011535117.1:c.3367_3368del	XP_011533419.1:p.Arg1123AlafsTer8
XM_011535118.1:c.3328_3329del	XP_011533420.1:p.Arg1110AlafsTer8
XM_011535119.1:c.3280_3281del	XP_011533421.1:p.Arg1094AlafsTer8
XM_011535120.1:c.3049_3050del	XP_011533422.1:p.Arg1017AlafsTer8
XM_011535121.1:c.2950_2951del	XP_011533423.1:p.Arg984AlafsTer8
XM_011535122.1:c.2131_2132del	XP_011533424.1:p.Arg711AlafsTer8
XR_941601.1:n.3682_3683del
XR_941602.1:n.3682_3683del
XR_941603.1:n.3682_3683del
XR_941604.1:n.3682_3683del
NM_001330578.1:c.3229_3230del	NP_001317507.1:p.Arg1077AlafsTer8
NM_001330579.1:c.3211_3212del	NP_001317508.1:p.Arg1071AlafsTer8
XM_005266424.4:c.3367_3368del	XP_005266481.1:p.Arg1123AlafsTer8
XM_005266430.4:c.3463_3464del	XP_005266487.1:p.Arg1155AlafsTer8
XM_005266431.4:c.3427_3428del	XP_005266488.1:p.Arg1143AlafsTer8
XM_006719837.3:c.3367_3368del	XP_006719900.1:p.Arg1123AlafsTer8
XM_011535117.3:c.3367_3368del	XP_011533419.1:p.Arg1123AlafsTer8
XM_017020627.1:c.3367_3368del	XP_016876116.1:p.Arg1123AlafsTer8
NM_000053.4:c.3463_3464del MANE Select	NP_000044.2:p.Arg1155AlafsTer8
NM_001005918.3:c.2842_2843del	NP_001005918.1:p.Arg948AlafsTer8
NM_001330579.2:c.3211_3212del	NP_001317508.1:p.Arg1071AlafsTer8
NM_001243182.2:c.3130_3131del	NP_001230111.1:p.Arg1044AlafsTer8
NM_001330578.2:c.3229_3230del	NP_001317507.1:p.Arg1077AlafsTer8