Canonical Allele Identifier: CA2695218098

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51970524_51970525insT , CM000675.2:g.51970524_51970525insT	GRCh38
NC_000013.10:g.52544660_52544661insT , CM000675.1:g.52544660_52544661insT	GRCh37
NC_000013.9:g.51442661_51442662insT	NCBI36
NG_008806.1:g.45970_45971insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1510_1511insA	ENSP00000489512.2:p.Ser504TyrfsTer2
ENST00000673864.2:c.*254_*255insA	ENSP00000501045.2:n.*254_*255insA
ENST00000674147.2:c.1510_1511insA	ENSP00000500964.2:p.Ser504TyrfsTer2
ENST00000242839.10:c.1510_1511insA MANE Select	ENSP00000242839.5:p.Ser504TyrfsTer2
ENST00000344297.9:c.1510_1511insA	ENSP00000342559.5:p.Ser504TyrfsTer2
ENST00000400366.6:c.1177_1178insA	ENSP00000383217.3:p.Ser393TyrfsTer2
ENST00000448424.7:c.1510_1511insA	ENSP00000416738.3:p.Ser504TyrfsTer2
ENST00000483772.2:n.266_267insA
ENST00000673772.1:c.1510_1511insA	ENSP00000501168.1:p.Ser504TyrfsTer2
ENST00000673789.1:n.466_467insA
ENST00000673864.1:c.704_705insA	ENSP00000501045.1:n.704_705insA
ENST00000674078.1:n.1611_1612insA
ENST00000674147.1:c.1066_1067insA	ENSP00000500964.1:p.Ser356TyrfsTer2
ENST00000242839.8:c.1510_1511insA	ENSP00000242839.4:p.Ser504TyrfsTer2
ENST00000344297.8:c.1510_1511insA	ENSP00000342559.5:p.Ser504TyrfsTer2
ENST00000400366.5:c.1177_1178insA	ENSP00000383217.3:p.Ser393TyrfsTer2
ENST00000400370.8:c.1285+3410_1285+3411insA	ENSP00000383221.3:n.1285+3410_1285+3411insA
ENST00000418097.7:c.1510_1511insA	ENSP00000393343.2:p.Ser504TyrfsTer2
ENST00000448424.6:c.1510_1511insA	ENSP00000416738.2:p.Ser504TyrfsTer2
ENST00000482841.6:n.1631_1632insA
ENST00000483772.1:n.266_267insA
ENST00000634308.1:c.1510_1511insA	ENSP00000489234.1:p.Ser504TyrfsTer2
ENST00000634620.1:n.2_3insA
ENST00000634844.1:c.1510_1511insA	ENSP00000489398.1:p.Ser504TyrfsTer2
ENST00000635406.1:n.212-24047_212-24046insA
NM_000053.3:c.1510_1511insA	NP_000044.2:p.Ser504TyrfsTer2
NM_001005918.2:c.1510_1511insA	NP_001005918.1:p.Ser504TyrfsTer2
NM_001243182.1:c.1177_1178insA	NP_001230111.1:p.Ser393TyrfsTer2
XM_005266423.2:c.1414_1415insA	XP_005266480.1:p.Ser472TyrfsTer2
XM_005266424.3:c.1414_1415insA	XP_005266481.1:p.Ser472TyrfsTer2
XM_005266427.2:c.1510_1511insA	XP_005266484.1:p.Ser504TyrfsTer2
XM_005266428.1:c.1510_1511insA	XP_005266485.1:p.Ser504TyrfsTer2
XM_005266430.3:c.1510_1511insA	XP_005266487.1:p.Ser504TyrfsTer2
XM_005266431.2:c.1474_1475insA	XP_005266488.1:p.Ser492TyrfsTer2
XM_005266432.2:c.1510_1511insA	XP_005266489.1:p.Ser504TyrfsTer2
XM_006719837.2:c.1414_1415insA	XP_006719900.1:p.Ser472TyrfsTer2
XM_011535117.1:c.1414_1415insA	XP_011533419.1:p.Ser472TyrfsTer2
XM_011535118.1:c.1510_1511insA	XP_011533420.1:p.Ser504TyrfsTer2
XM_011535119.1:c.1510_1511insA	XP_011533421.1:p.Ser504TyrfsTer2
XM_011535120.1:c.1510_1511insA	XP_011533422.1:p.Ser504TyrfsTer2
XM_011535121.1:c.1510_1511insA	XP_011533423.1:p.Ser504TyrfsTer2
XM_011535122.1:c.178_179insA	XP_011533424.1:p.Ser60TyrfsTer2
XR_941601.1:n.1729_1730insA
XR_941602.1:n.1729_1730insA
XR_941603.1:n.1729_1730insA
XR_941604.1:n.1729_1730insA
NM_001330578.1:c.1510_1511insA	NP_001317507.1:p.Ser504TyrfsTer2
NM_001330579.1:c.1510_1511insA	NP_001317508.1:p.Ser504TyrfsTer2
XM_005266424.4:c.1414_1415insA	XP_005266481.1:p.Ser472TyrfsTer2
XM_005266430.4:c.1510_1511insA	XP_005266487.1:p.Ser504TyrfsTer2
XM_005266431.4:c.1474_1475insA	XP_005266488.1:p.Ser492TyrfsTer2
XM_006719837.3:c.1414_1415insA	XP_006719900.1:p.Ser472TyrfsTer2
XM_011535117.3:c.1414_1415insA	XP_011533419.1:p.Ser472TyrfsTer2
XM_017020627.1:c.1414_1415insA	XP_016876116.1:p.Ser472TyrfsTer2
NM_000053.4:c.1510_1511insA MANE Select	NP_000044.2:p.Ser504TyrfsTer2
NM_001005918.3:c.1510_1511insA	NP_001005918.1:p.Ser504TyrfsTer2
NM_001330579.2:c.1510_1511insA	NP_001317508.1:p.Ser504TyrfsTer2
NM_001243182.2:c.1177_1178insA	NP_001230111.1:p.Ser393TyrfsTer2
NM_001330578.2:c.1510_1511insA	NP_001317507.1:p.Ser504TyrfsTer2