Canonical Allele Identifier: CA2695218792

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950093_51950094del , CM000675.2:g.51950093_51950094del	GRCh38
NC_000013.10:g.52524229_52524230del , CM000675.1:g.52524229_52524230del	GRCh37
NC_000013.9:g.51422230_51422231del	NCBI36
NG_008806.1:g.66403_66404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*478_*479del	ENSP00000489512.2:n.*478_*479del
ENST00000673864.2:c.*1389_*1390del	ENSP00000501045.2:n.*1389_*1390del
ENST00000674147.2:c.2159_2160del	ENSP00000500964.2:p.Ser720CysfsTer4
ENST00000242839.10:c.2645_2646del MANE Select	ENSP00000242839.5:p.Ser882CysfsTer4
ENST00000344297.9:c.2159_2160del	ENSP00000342559.5:p.Ser720CysfsTer4
ENST00000400366.6:c.2312_2313del	ENSP00000383217.3:p.Ser771CysfsTer4
ENST00000448424.7:c.2393_2394del	ENSP00000416738.3:p.Ser798CysfsTer4
ENST00000673772.1:c.2411_2412del	ENSP00000501168.1:p.Ser804CysfsTer4
ENST00000674147.1:c.1715_1716del	ENSP00000500964.1:p.Ser572CysfsTer4
ENST00000242839.8:c.2645_2646del	ENSP00000242839.4:p.Ser882CysfsTer4
ENST00000344297.8:c.2159_2160del	ENSP00000342559.5:p.Ser720CysfsTer4
ENST00000400366.5:c.2312_2313del	ENSP00000383217.3:p.Ser771CysfsTer4
ENST00000400370.8:c.1355_1356del	ENSP00000383221.3:p.Ser452CysfsTer4
ENST00000418097.7:c.2645_2646del	ENSP00000393343.2:p.Ser882CysfsTer4
ENST00000448424.6:c.2411_2412del	ENSP00000416738.2:p.Ser804CysfsTer4
ENST00000634296.1:c.606_607del
ENST00000634308.1:c.2411_2412del	ENSP00000489234.1:p.Ser804CysfsTer4
ENST00000634620.1:n.3443_3444del
ENST00000634810.1:n.1990_1991del
ENST00000634844.1:c.2501_2502del	ENSP00000489398.1:p.Ser834CysfsTer4
ENST00000635406.1:n.212-3614_212-3613del
NM_000053.3:c.2645_2646del	NP_000044.2:p.Ser882CysfsTer4
NM_001005918.2:c.2159_2160del	NP_001005918.1:p.Ser720CysfsTer4
NM_001243182.1:c.2312_2313del	NP_001230111.1:p.Ser771CysfsTer4
XM_005266423.2:c.2549_2550del	XP_005266480.1:p.Ser850CysfsTer4
XM_005266424.3:c.2549_2550del	XP_005266481.1:p.Ser850CysfsTer4
XM_005266427.2:c.2411_2412del	XP_005266484.1:p.Ser804CysfsTer4
XM_005266428.1:c.2393_2394del	XP_005266485.1:p.Ser798CysfsTer4
XM_005266430.3:c.2645_2646del	XP_005266487.1:p.Ser882CysfsTer4
XM_005266431.2:c.2609_2610del	XP_005266488.1:p.Ser870CysfsTer4
XM_005266432.2:c.2159_2160del	XP_005266489.1:p.Ser720CysfsTer4
XM_006719837.2:c.2549_2550del	XP_006719900.1:p.Ser850CysfsTer4
XM_006719838.1:c.461_462del	XP_006719901.1:p.Ser154CysfsTer4
XM_006719839.1:c.461_462del	XP_006719902.1:p.Ser154CysfsTer4
XM_011535117.1:c.2549_2550del	XP_011533419.1:p.Ser850CysfsTer4
XM_011535118.1:c.2645_2646del	XP_011533420.1:p.Ser882CysfsTer4
XM_011535119.1:c.2645_2646del	XP_011533421.1:p.Ser882CysfsTer4
XM_011535120.1:c.2231_2232del	XP_011533422.1:p.Ser744CysfsTer4
XM_011535121.1:c.2645_2646del	XP_011533423.1:p.Ser882CysfsTer4
XM_011535122.1:c.1313_1314del	XP_011533424.1:p.Ser438CysfsTer4
XR_941601.1:n.2864_2865del
XR_941602.1:n.2864_2865del
XR_941603.1:n.2864_2865del
XR_941604.1:n.2864_2865del
NM_001330578.1:c.2411_2412del	NP_001317507.1:p.Ser804CysfsTer4
NM_001330579.1:c.2393_2394del	NP_001317508.1:p.Ser798CysfsTer4
XM_005266424.4:c.2549_2550del	XP_005266481.1:p.Ser850CysfsTer4
XM_005266430.4:c.2645_2646del	XP_005266487.1:p.Ser882CysfsTer4
XM_005266431.4:c.2609_2610del	XP_005266488.1:p.Ser870CysfsTer4
XM_006719837.3:c.2549_2550del	XP_006719900.1:p.Ser850CysfsTer4
XM_011535117.3:c.2549_2550del	XP_011533419.1:p.Ser850CysfsTer4
XM_017020627.1:c.2549_2550del	XP_016876116.1:p.Ser850CysfsTer4
NM_000053.4:c.2645_2646del MANE Select	NP_000044.2:p.Ser882CysfsTer4
NM_001005918.3:c.2159_2160del	NP_001005918.1:p.Ser720CysfsTer4
NM_001330579.2:c.2393_2394del	NP_001317508.1:p.Ser798CysfsTer4
NM_001243182.2:c.2312_2313del	NP_001230111.1:p.Ser771CysfsTer4
NM_001330578.2:c.2411_2412del	NP_001317507.1:p.Ser804CysfsTer4