Canonical Allele Identifier: CA2695218754

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944266_51944267del , CM000675.2:g.51944266_51944267del	GRCh38
NC_000013.10:g.52518402_52518403del , CM000675.1:g.52518402_52518403del	GRCh37
NC_000013.9:g.51416403_51416404del	NCBI36
NG_008806.1:g.72228_72229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1713_*894-1712del	ENSP00000489512.2:n.*894-1713_*894-1712del
ENST00000673864.2:c.*1829_*1830del	ENSP00000501045.2:n.*1829_*1830del
ENST00000674147.2:c.2464_2465del	ENSP00000500964.2:p.Thr822TrpfsTer?
ENST00000242839.10:c.3085_3086del MANE Select	ENSP00000242839.5:p.Thr1029TrpfsTer?
ENST00000344297.9:c.2464_2465del	ENSP00000342559.5:p.Thr822TrpfsTer?
ENST00000400366.6:c.2752_2753del	ENSP00000383217.3:p.Thr918TrpfsTer?
ENST00000448424.7:c.2833_2834del	ENSP00000416738.3:p.Thr945TrpfsTer?
ENST00000673772.1:c.2851_2852del	ENSP00000501168.1:p.Thr951TrpfsTer?
ENST00000673867.1:n.3224_3225del
ENST00000674126.1:n.3448_3449del
ENST00000674147.1:c.2020_2021del	ENSP00000500964.1:p.Thr674TrpfsTer?
ENST00000242839.8:c.3085_3086del	ENSP00000242839.4:p.Thr1029TrpfsTer?
ENST00000344297.8:c.2464_2465del	ENSP00000342559.5:p.Thr822TrpfsTer?
ENST00000400366.5:c.2752_2753del	ENSP00000383217.3:p.Thr918TrpfsTer?
ENST00000400370.8:c.1795_1796del	ENSP00000383221.3:p.Thr599TrpfsTer?
ENST00000418097.7:c.2890_2891del	ENSP00000393343.2:p.Thr964TrpfsTer?
ENST00000448424.6:c.2851_2852del	ENSP00000416738.2:p.Thr951TrpfsTer?
ENST00000466629.1:n.305_306del
ENST00000634296.1:c.1022-1713_1022-1712del
ENST00000634308.1:c.*186_*187del	ENSP00000489234.1:n.*186_*187del
ENST00000634620.1:n.3829_3830del
ENST00000634810.1:n.2430_2431del
ENST00000634844.1:c.2941_2942del	ENSP00000489398.1:p.Thr981TrpfsTer?
ENST00000635406.1:n.431_432del
NM_000053.3:c.3085_3086del	NP_000044.2:p.Thr1029TrpfsTer?
NM_001005918.2:c.2464_2465del	NP_001005918.1:p.Thr822TrpfsTer?
NM_001243182.1:c.2752_2753del	NP_001230111.1:p.Thr918TrpfsTer?
XM_005266423.2:c.2989_2990del	XP_005266480.1:p.Thr997TrpfsTer?
XM_005266424.3:c.2989_2990del	XP_005266481.1:p.Thr997TrpfsTer?
XM_005266427.2:c.2851_2852del	XP_005266484.1:p.Thr951TrpfsTer?
XM_005266428.1:c.2833_2834del	XP_005266485.1:p.Thr945TrpfsTer?
XM_005266430.3:c.3085_3086del	XP_005266487.1:p.Thr1029TrpfsTer?
XM_005266431.2:c.3049_3050del	XP_005266488.1:p.Thr1017TrpfsTer?
XM_005266432.2:c.2599_2600del	XP_005266489.1:p.Thr867TrpfsTer?
XM_006719837.2:c.2989_2990del	XP_006719900.1:p.Thr997TrpfsTer?
XM_006719838.1:c.901_902del	XP_006719901.1:p.Thr301TrpfsTer?
XM_006719839.1:c.877-1713_877-1712del	XP_006719902.1:n.877-1713_877-1712del
XM_011535117.1:c.2989_2990del	XP_011533419.1:p.Thr997TrpfsTer?
XM_011535118.1:c.2950_2951del	XP_011533420.1:p.Thr984TrpfsTer?
XM_011535119.1:c.3061-1713_3061-1712del	XP_011533421.1:n.3061-1713_3061-1712del
XM_011535120.1:c.2671_2672del	XP_011533422.1:p.Thr891TrpfsTer?
XM_011535121.1:c.2731-1713_2731-1712del	XP_011533423.1:n.2731-1713_2731-1712del
XM_011535122.1:c.1753_1754del	XP_011533424.1:p.Thr585TrpfsTer?
XR_941601.1:n.3304_3305del
XR_941602.1:n.3304_3305del
XR_941603.1:n.3304_3305del
XR_941604.1:n.3304_3305del
NM_001330578.1:c.2851_2852del	NP_001317507.1:p.Thr951TrpfsTer?
NM_001330579.1:c.2833_2834del	NP_001317508.1:p.Thr945TrpfsTer?
XM_005266424.4:c.2989_2990del	XP_005266481.1:p.Thr997TrpfsTer?
XM_005266430.4:c.3085_3086del	XP_005266487.1:p.Thr1029TrpfsTer?
XM_005266431.4:c.3049_3050del	XP_005266488.1:p.Thr1017TrpfsTer?
XM_006719837.3:c.2989_2990del	XP_006719900.1:p.Thr997TrpfsTer?
XM_011535117.3:c.2989_2990del	XP_011533419.1:p.Thr997TrpfsTer?
XM_017020627.1:c.2989_2990del	XP_016876116.1:p.Thr997TrpfsTer?
NM_000053.4:c.3085_3086del MANE Select	NP_000044.2:p.Thr1029TrpfsTer?
NM_001005918.3:c.2464_2465del	NP_001005918.1:p.Thr822TrpfsTer?
NM_001330579.2:c.2833_2834del	NP_001317508.1:p.Thr945TrpfsTer?
NM_001243182.2:c.2752_2753del	NP_001230111.1:p.Thr918TrpfsTer?
NM_001330578.2:c.2851_2852del	NP_001317507.1:p.Thr951TrpfsTer?