Canonical Allele Identifier: CA2846911473

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946331_51946333del , CM000675.2:g.51946331_51946333del	GRCh38
NC_000013.10:g.52520467_52520469del , CM000675.1:g.52520467_52520469del	GRCh37
NC_000013.9:g.51418468_51418470del	NCBI36
NG_008806.1:g.70163_70165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*845_*847del	ENSP00000489512.2:n.*845_*847del
ENST00000673864.2:c.*1756_*1758del	ENSP00000501045.2:n.*1756_*1758del
ENST00000674147.2:c.2391_2393del	ENSP00000500964.2:p.Gln797_Asn798delinsHis
ENST00000242839.10:c.3012_3014del MANE Select	ENSP00000242839.5:p.Gln1004_Asn1005delinsHis
ENST00000344297.9:c.2391_2393del	ENSP00000342559.5:p.Gln797_Asn798delinsHis
ENST00000400366.6:c.2679_2681del	ENSP00000383217.3:p.Gln893_Asn894delinsHis
ENST00000448424.7:c.2760_2762del	ENSP00000416738.3:p.Gln920_Asn921delinsHis
ENST00000673772.1:c.2778_2780del	ENSP00000501168.1:p.Gln926_Asn927delinsHis
ENST00000673867.1:n.1159_1161del
ENST00000674126.1:n.3375_3377del
ENST00000674147.1:c.1947_1949del	ENSP00000500964.1:p.Gln649_Asn650delinsHis
ENST00000242839.8:c.3012_3014del	ENSP00000242839.4:p.Gln1004_Asn1005delinsHis
ENST00000344297.8:c.2391_2393del	ENSP00000342559.5:p.Gln797_Asn798delinsHis
ENST00000400366.5:c.2679_2681del	ENSP00000383217.3:p.Gln893_Asn894delinsHis
ENST00000400370.8:c.1722_1724del	ENSP00000383221.3:p.Gln574_Asn575delinsHis
ENST00000418097.7:c.2866-2041_2866-2039del	ENSP00000393343.2:n.2866-2041_2866-2039del
ENST00000448424.6:c.2778_2780del	ENSP00000416738.2:p.Gln926_Asn927delinsHis
ENST00000466629.1:n.232_234del
ENST00000634296.1:c.973_975del
ENST00000634308.1:c.*113_*115del	ENSP00000489234.1:n.*113_*115del
ENST00000634620.1:n.3756_3758del
ENST00000634810.1:n.2357_2359del
ENST00000634844.1:c.2868_2870del	ENSP00000489398.1:p.Gln956_Asn957delinsHis
ENST00000635406.1:n.358_360del
NM_000053.3:c.3012_3014del	NP_000044.2:p.Gln1004_Asn1005delinsHis
NM_001005918.2:c.2391_2393del	NP_001005918.1:p.Gln797_Asn798delinsHis
NM_001243182.1:c.2679_2681del	NP_001230111.1:p.Gln893_Asn894delinsHis
XM_005266423.2:c.2916_2918del	XP_005266480.1:p.Gln972_Asn973delinsHis
XM_005266424.3:c.2916_2918del	XP_005266481.1:p.Gln972_Asn973delinsHis
XM_005266427.2:c.2778_2780del	XP_005266484.1:p.Gln926_Asn927delinsHis
XM_005266428.1:c.2760_2762del	XP_005266485.1:p.Gln920_Asn921delinsHis
XM_005266430.3:c.3012_3014del	XP_005266487.1:p.Gln1004_Asn1005delinsHis
XM_005266431.2:c.2976_2978del	XP_005266488.1:p.Gln992_Asn993delinsHis
XM_005266432.2:c.2526_2528del	XP_005266489.1:p.Gln842_Asn843delinsHis
XM_006719837.2:c.2916_2918del	XP_006719900.1:p.Gln972_Asn973delinsHis
XM_006719838.1:c.828_830del	XP_006719901.1:p.Gln276_Asn277delinsHis
XM_006719839.1:c.828_830del	XP_006719902.1:p.Gln276_Asn277delinsHis
XM_011535117.1:c.2916_2918del	XP_011533419.1:p.Gln972_Asn973delinsHis
XM_011535118.1:c.2877_2879del	XP_011533420.1:p.Gln959_Asn960delinsHis
XM_011535119.1:c.3012_3014del	XP_011533421.1:p.Gln1004_Asn1005delinsHis
XM_011535120.1:c.2598_2600del	XP_011533422.1:p.Gln866_Asn867delinsHis
XM_011535121.1:c.2730+3675_2730+3677del	XP_011533423.1:n.2730+3675_2730+3677del
XM_011535122.1:c.1680_1682del	XP_011533424.1:p.Gln560_Asn561delinsHis
XR_941601.1:n.3231_3233del
XR_941602.1:n.3231_3233del
XR_941603.1:n.3231_3233del
XR_941604.1:n.3231_3233del
NM_001330578.1:c.2778_2780del	NP_001317507.1:p.Gln926_Asn927delinsHis
NM_001330579.1:c.2760_2762del	NP_001317508.1:p.Gln920_Asn921delinsHis
XM_005266424.4:c.2916_2918del	XP_005266481.1:p.Gln972_Asn973delinsHis
XM_005266430.4:c.3012_3014del	XP_005266487.1:p.Gln1004_Asn1005delinsHis
XM_005266431.4:c.2976_2978del	XP_005266488.1:p.Gln992_Asn993delinsHis
XM_006719837.3:c.2916_2918del	XP_006719900.1:p.Gln972_Asn973delinsHis
XM_011535117.3:c.2916_2918del	XP_011533419.1:p.Gln972_Asn973delinsHis
XM_017020627.1:c.2916_2918del	XP_016876116.1:p.Gln972_Asn973delinsHis
NM_000053.4:c.3012_3014del MANE Select	NP_000044.2:p.Gln1004_Asn1005delinsHis
NM_001005918.3:c.2391_2393del	NP_001005918.1:p.Gln797_Asn798delinsHis
NM_001330579.2:c.2760_2762del	NP_001317508.1:p.Gln920_Asn921delinsHis
NM_001243182.2:c.2679_2681del	NP_001230111.1:p.Gln893_Asn894delinsHis
NM_001330578.2:c.2778_2780del	NP_001317507.1:p.Gln926_Asn927delinsHis