Canonical Allele Identifier: CA2695218744

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937487_51937496delinsTG , CM000675.2:g.51937487_51937496delinsTG	GRCh38
NC_000013.10:g.52511623_52511632delinsTG , CM000675.1:g.52511623_52511632delinsTG	GRCh37
NC_000013.9:g.51409624_51409633delinsTG	NCBI36
NG_008806.1:g.78999_79008delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1533_*1542delinsCA	ENSP00000489512.2:n.*1533_*1542delinsCA
ENST00000673864.2:c.*2627_*2636delinsCA	ENSP00000501045.2:n.*2627_*2636delinsCA
ENST00000674147.2:c.3262_3271delinsCA	ENSP00000500964.2:p.Ala1088HisfsTer6
ENST00000242839.10:c.3883_3892delinsCA MANE Select	ENSP00000242839.5:p.Ala1295HisfsTer6
ENST00000344297.9:c.3262_3271delinsCA	ENSP00000342559.5:p.Ala1088HisfsTer6
ENST00000400366.6:c.3550_3559delinsCA	ENSP00000383217.3:p.Ala1184HisfsTer6
ENST00000448424.7:c.3631_3640delinsCA	ENSP00000416738.3:p.Ala1211HisfsTer6
ENST00000673696.1:n.1124_1133delinsCA
ENST00000673772.1:c.3649_3658delinsCA	ENSP00000501168.1:p.Ala1217HisfsTer6
ENST00000673867.1:n.4022_4031delinsCA
ENST00000673923.1:n.749_758delinsCA
ENST00000674147.1:c.2818_2827delinsCA	ENSP00000500964.1:p.Ala940HisfsTer6
ENST00000242839.8:c.3883_3892delinsCA	ENSP00000242839.4:p.Ala1295HisfsTer6
ENST00000344297.8:c.3262_3271delinsCA	ENSP00000342559.5:p.Ala1088HisfsTer6
ENST00000400366.5:c.3550_3559delinsCA	ENSP00000383217.3:p.Ala1184HisfsTer6
ENST00000400370.8:c.2593_2602delinsCA	ENSP00000383221.3:p.Ala865HisfsTer6
ENST00000418097.7:c.3688_3697delinsCA	ENSP00000393343.2:p.Ala1230HisfsTer6
ENST00000448424.6:c.3649_3658delinsCA	ENSP00000416738.2:p.Ala1217HisfsTer6
ENST00000634296.1:c.1661_1670delinsCA
ENST00000634308.1:c.*984_*993delinsCA	ENSP00000489234.1:n.*984_*993delinsCA
ENST00000634620.1:n.4627_4636delinsCA
ENST00000634810.1:n.3228_3237delinsCA
ENST00000634844.1:c.3739_3748delinsCA	ENSP00000489398.1:p.Ala1247HisfsTer6
NM_000053.3:c.3883_3892delinsCA	NP_000044.2:p.Ala1295HisfsTer6
NM_001005918.2:c.3262_3271delinsCA	NP_001005918.1:p.Ala1088HisfsTer6
NM_001243182.1:c.3550_3559delinsCA	NP_001230111.1:p.Ala1184HisfsTer6
XM_005266423.2:c.3787_3796delinsCA	XP_005266480.1:p.Ala1263HisfsTer6
XM_005266424.3:c.3787_3796delinsCA	XP_005266481.1:p.Ala1263HisfsTer6
XM_005266427.2:c.3649_3658delinsCA	XP_005266484.1:p.Ala1217HisfsTer6
XM_005266428.1:c.3631_3640delinsCA	XP_005266485.1:p.Ala1211HisfsTer6
XM_005266430.3:c.3883_3892delinsCA	XP_005266487.1:p.Ala1295HisfsTer6
XM_005266431.2:c.3847_3856delinsCA	XP_005266488.1:p.Ala1283HisfsTer6
XM_005266432.2:c.3397_3406delinsCA	XP_005266489.1:p.Ala1133HisfsTer6
XM_006719837.2:c.3787_3796delinsCA	XP_006719900.1:p.Ala1263HisfsTer6
XM_006719838.1:c.1699_1708delinsCA	XP_006719901.1:p.Ala567HisfsTer6
XM_006719839.1:c.1516_1525delinsCA	XP_006719902.1:p.Ala506HisfsTer6
XM_011535117.1:c.3787_3796delinsCA	XP_011533419.1:p.Ala1263HisfsTer6
XM_011535118.1:c.3748_3757delinsCA	XP_011533420.1:p.Ala1250HisfsTer6
XM_011535119.1:c.3700_3709delinsCA	XP_011533421.1:p.Ala1234HisfsTer6
XM_011535120.1:c.3469_3478delinsCA	XP_011533422.1:p.Ala1157HisfsTer6
XM_011535121.1:c.3370_3379delinsCA	XP_011533423.1:p.Ala1124HisfsTer6
XM_011535122.1:c.2551_2560delinsCA	XP_011533424.1:p.Ala851HisfsTer6
XR_941601.1:n.4102_4111delinsCA
XR_941602.1:n.4102_4111delinsCA
XR_941603.1:n.4102_4111delinsCA
XR_941604.1:n.4102_4111delinsCA
NM_001330578.1:c.3649_3658delinsCA	NP_001317507.1:p.Ala1217HisfsTer6
NM_001330579.1:c.3631_3640delinsCA	NP_001317508.1:p.Ala1211HisfsTer6
XM_005266424.4:c.3787_3796delinsCA	XP_005266481.1:p.Ala1263HisfsTer6
XM_005266430.4:c.3883_3892delinsCA	XP_005266487.1:p.Ala1295HisfsTer6
XM_005266431.4:c.3847_3856delinsCA	XP_005266488.1:p.Ala1283HisfsTer6
XM_006719837.3:c.3787_3796delinsCA	XP_006719900.1:p.Ala1263HisfsTer6
XM_011535117.3:c.3787_3796delinsCA	XP_011533419.1:p.Ala1263HisfsTer6
XM_017020627.1:c.3787_3796delinsCA	XP_016876116.1:p.Ala1263HisfsTer6
NM_000053.4:c.3883_3892delinsCA MANE Select	NP_000044.2:p.Ala1295HisfsTer6
NM_001005918.3:c.3262_3271delinsCA	NP_001005918.1:p.Ala1088HisfsTer6
NM_001330579.2:c.3631_3640delinsCA	NP_001317508.1:p.Ala1211HisfsTer6
NM_001243182.2:c.3550_3559delinsCA	NP_001230111.1:p.Ala1184HisfsTer6
NM_001330578.2:c.3649_3658delinsCA	NP_001317507.1:p.Ala1217HisfsTer6