Canonical Allele Identifier: CA2091559573

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941198_51941200delinsGCA , CM000675.2:g.51941198_51941200delinsGCA	GRCh38
NC_000013.10:g.52515334_52515336delinsGCA , CM000675.1:g.52515334_52515336delinsGCA	GRCh37
NC_000013.9:g.51413335_51413337delinsGCA	NCBI36
NG_008806.1:g.75295_75297delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1087_*1089delinsTGC	ENSP00000489512.2:n.*1087_*1089delinsTGC
ENST00000673864.2:c.*2181_*2183delinsTGC	ENSP00000501045.2:n.*2181_*2183delinsTGC
ENST00000674147.2:c.2816_2818delinsTGC	ENSP00000500964.2:p.Val939=
ENST00000242839.10:c.3437_3439delinsTGC MANE Select	ENSP00000242839.5:p.Val1146=
ENST00000344297.9:c.2816_2818delinsTGC	ENSP00000342559.5:p.Val939=
ENST00000400366.6:c.3104_3106delinsTGC	ENSP00000383217.3:p.Val1035=
ENST00000448424.7:c.3185_3187delinsTGC	ENSP00000416738.3:p.Val1062=
ENST00000673772.1:c.3203_3205delinsTGC	ENSP00000501168.1:p.Val1068=
ENST00000673867.1:n.3576_3578delinsTGC
ENST00000674126.1:n.3800_3802delinsTGC
ENST00000674147.1:c.2372_2374delinsTGC	ENSP00000500964.1:p.Val791=
ENST00000242839.8:c.3437_3439delinsTGC	ENSP00000242839.4:p.Val1146=
ENST00000344297.8:c.2816_2818delinsTGC	ENSP00000342559.5:p.Val939=
ENST00000400366.5:c.3104_3106delinsTGC	ENSP00000383217.3:p.Val1035=
ENST00000400370.8:c.2147_2149delinsTGC	ENSP00000383221.3:p.Val716=
ENST00000418097.7:c.3242_3244delinsTGC	ENSP00000393343.2:p.Val1081=
ENST00000448424.6:c.3203_3205delinsTGC	ENSP00000416738.2:p.Val1068=
ENST00000634296.1:c.1215_1217delinsTGC
ENST00000634308.1:c.*538_*540delinsTGC	ENSP00000489234.1:n.*538_*540delinsTGC
ENST00000634620.1:n.4181_4183delinsTGC
ENST00000634810.1:n.2782_2784delinsTGC
ENST00000634844.1:c.3293_3295delinsTGC	ENSP00000489398.1:p.Val1098=
NM_000053.3:c.3437_3439delinsTGC	NP_000044.2:p.Val1146=
NM_001005918.2:c.2816_2818delinsTGC	NP_001005918.1:p.Val939=
NM_001243182.1:c.3104_3106delinsTGC	NP_001230111.1:p.Val1035=
XM_005266423.2:c.3341_3343delinsTGC	XP_005266480.1:p.Val1114=
XM_005266424.3:c.3341_3343delinsTGC	XP_005266481.1:p.Val1114=
XM_005266427.2:c.3203_3205delinsTGC	XP_005266484.1:p.Val1068=
XM_005266428.1:c.3185_3187delinsTGC	XP_005266485.1:p.Val1062=
XM_005266430.3:c.3437_3439delinsTGC	XP_005266487.1:p.Val1146=
XM_005266431.2:c.3401_3403delinsTGC	XP_005266488.1:p.Val1134=
XM_005266432.2:c.2951_2953delinsTGC	XP_005266489.1:p.Val984=
XM_006719837.2:c.3341_3343delinsTGC	XP_006719900.1:p.Val1114=
XM_006719838.1:c.1253_1255delinsTGC	XP_006719901.1:p.Val418=
XM_006719839.1:c.1070_1072delinsTGC	XP_006719902.1:p.Val357=
XM_011535117.1:c.3341_3343delinsTGC	XP_011533419.1:p.Val1114=
XM_011535118.1:c.3302_3304delinsTGC	XP_011533420.1:p.Val1101=
XM_011535119.1:c.3254_3256delinsTGC	XP_011533421.1:p.Val1085=
XM_011535120.1:c.3023_3025delinsTGC	XP_011533422.1:p.Val1008=
XM_011535121.1:c.2924_2926delinsTGC	XP_011533423.1:p.Val975=
XM_011535122.1:c.2105_2107delinsTGC	XP_011533424.1:p.Val702=
XR_941601.1:n.3656_3658delinsTGC
XR_941602.1:n.3656_3658delinsTGC
XR_941603.1:n.3656_3658delinsTGC
XR_941604.1:n.3656_3658delinsTGC
NM_001330578.1:c.3203_3205delinsTGC	NP_001317507.1:p.Val1068=
NM_001330579.1:c.3185_3187delinsTGC	NP_001317508.1:p.Val1062=
XM_005266424.4:c.3341_3343delinsTGC	XP_005266481.1:p.Val1114=
XM_005266430.4:c.3437_3439delinsTGC	XP_005266487.1:p.Val1146=
XM_005266431.4:c.3401_3403delinsTGC	XP_005266488.1:p.Val1134=
XM_006719837.3:c.3341_3343delinsTGC	XP_006719900.1:p.Val1114=
XM_011535117.3:c.3341_3343delinsTGC	XP_011533419.1:p.Val1114=
XM_017020627.1:c.3341_3343delinsTGC	XP_016876116.1:p.Val1114=
NM_000053.4:c.3437_3439delinsTGC MANE Select	NP_000044.2:p.Val1146=
NM_001005918.3:c.2816_2818delinsTGC	NP_001005918.1:p.Val939=
NM_001330579.2:c.3185_3187delinsTGC	NP_001317508.1:p.Val1062=
NM_001243182.2:c.3104_3106delinsTGC	NP_001230111.1:p.Val1035=
NM_001330578.2:c.3203_3205delinsTGC	NP_001317507.1:p.Val1068=