Canonical Allele Identifier: CA2695218762

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946319_51946321del , CM000675.2:g.51946319_51946321del	GRCh38
NC_000013.10:g.52520455_52520457del , CM000675.1:g.52520455_52520457del	GRCh37
NC_000013.9:g.51418456_51418458del	NCBI36
NG_008806.1:g.70177_70179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*859_*861del	ENSP00000489512.2:n.*859_*861del
ENST00000673864.2:c.*1770_*1772del	ENSP00000501045.2:n.*1770_*1772del
ENST00000674147.2:c.2405_2407del	ENSP00000500964.2:p.Ile802del
ENST00000242839.10:c.3026_3028del MANE Select	ENSP00000242839.5:p.Ile1009del
ENST00000344297.9:c.2405_2407del	ENSP00000342559.5:p.Ile802del
ENST00000400366.6:c.2693_2695del	ENSP00000383217.3:p.Ile898del
ENST00000448424.7:c.2774_2776del	ENSP00000416738.3:p.Ile925del
ENST00000673772.1:c.2792_2794del	ENSP00000501168.1:p.Ile931del
ENST00000673867.1:n.1173_1175del
ENST00000674126.1:n.3389_3391del
ENST00000674147.1:c.1961_1963del	ENSP00000500964.1:p.Ile654del
ENST00000242839.8:c.3026_3028del	ENSP00000242839.4:p.Ile1009del
ENST00000344297.8:c.2405_2407del	ENSP00000342559.5:p.Ile802del
ENST00000400366.5:c.2693_2695del	ENSP00000383217.3:p.Ile898del
ENST00000400370.8:c.1736_1738del	ENSP00000383221.3:p.Ile579del
ENST00000418097.7:c.2866-2027_2866-2025del	ENSP00000393343.2:n.2866-2027_2866-2025del
ENST00000448424.6:c.2792_2794del	ENSP00000416738.2:p.Ile931del
ENST00000466629.1:n.246_248del
ENST00000634296.1:c.987_989del
ENST00000634308.1:c.*127_*129del	ENSP00000489234.1:n.*127_*129del
ENST00000634620.1:n.3770_3772del
ENST00000634810.1:n.2371_2373del
ENST00000634844.1:c.2882_2884del	ENSP00000489398.1:p.Ile961del
ENST00000635406.1:n.372_374del
NM_000053.3:c.3026_3028del	NP_000044.2:p.Ile1009del
NM_001005918.2:c.2405_2407del	NP_001005918.1:p.Ile802del
NM_001243182.1:c.2693_2695del	NP_001230111.1:p.Ile898del
XM_005266423.2:c.2930_2932del	XP_005266480.1:p.Ile977del
XM_005266424.3:c.2930_2932del	XP_005266481.1:p.Ile977del
XM_005266427.2:c.2792_2794del	XP_005266484.1:p.Ile931del
XM_005266428.1:c.2774_2776del	XP_005266485.1:p.Ile925del
XM_005266430.3:c.3026_3028del	XP_005266487.1:p.Ile1009del
XM_005266431.2:c.2990_2992del	XP_005266488.1:p.Ile997del
XM_005266432.2:c.2540_2542del	XP_005266489.1:p.Ile847del
XM_006719837.2:c.2930_2932del	XP_006719900.1:p.Ile977del
XM_006719838.1:c.842_844del	XP_006719901.1:p.Ile281del
XM_006719839.1:c.842_844del	XP_006719902.1:p.Ile281del
XM_011535117.1:c.2930_2932del	XP_011533419.1:p.Ile977del
XM_011535118.1:c.2891_2893del	XP_011533420.1:p.Ile964del
XM_011535119.1:c.3026_3028del	XP_011533421.1:p.Ile1009del
XM_011535120.1:c.2612_2614del	XP_011533422.1:p.Ile871del
XM_011535121.1:c.2730+3689_2730+3691del	XP_011533423.1:n.2730+3689_2730+3691del
XM_011535122.1:c.1694_1696del	XP_011533424.1:p.Ile565del
XR_941601.1:n.3245_3247del
XR_941602.1:n.3245_3247del
XR_941603.1:n.3245_3247del
XR_941604.1:n.3245_3247del
NM_001330578.1:c.2792_2794del	NP_001317507.1:p.Ile931del
NM_001330579.1:c.2774_2776del	NP_001317508.1:p.Ile925del
XM_005266424.4:c.2930_2932del	XP_005266481.1:p.Ile977del
XM_005266430.4:c.3026_3028del	XP_005266487.1:p.Ile1009del
XM_005266431.4:c.2990_2992del	XP_005266488.1:p.Ile997del
XM_006719837.3:c.2930_2932del	XP_006719900.1:p.Ile977del
XM_011535117.3:c.2930_2932del	XP_011533419.1:p.Ile977del
XM_017020627.1:c.2930_2932del	XP_016876116.1:p.Ile977del
NM_000053.4:c.3026_3028del MANE Select	NP_000044.2:p.Ile1009del
NM_001005918.3:c.2405_2407del	NP_001005918.1:p.Ile802del
NM_001330579.2:c.2774_2776del	NP_001317508.1:p.Ile925del
NM_001243182.2:c.2693_2695del	NP_001230111.1:p.Ile898del
NM_001330578.2:c.2792_2794del	NP_001317507.1:p.Ile931del