Canonical Allele Identifier: CA2697551868

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2760254
• ClinVar RCV Id: RCV003503200

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946449del , CM000675.2:g.51946449del	GRCh38
NC_000013.10:g.52520585del , CM000675.1:g.52520585del	GRCh37
NC_000013.9:g.51418586del	NCBI36
NG_008806.1:g.70047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*729del	ENSP00000489512.2:n.*729del
ENST00000673864.2:c.*1640del	ENSP00000501045.2:n.*1640del
ENST00000674147.2:c.2275del	ENSP00000500964.2:p.Val759Ter
ENST00000242839.10:c.2896del MANE Select	ENSP00000242839.5:p.Val966Ter
ENST00000344297.9:c.2275del	ENSP00000342559.5:p.Val759Ter
ENST00000400366.6:c.2563del	ENSP00000383217.3:p.Val855Ter
ENST00000448424.7:c.2644del	ENSP00000416738.3:p.Val882Ter
ENST00000673772.1:c.2662del	ENSP00000501168.1:p.Val888Ter
ENST00000673867.1:n.1043del
ENST00000674126.1:n.3259del
ENST00000674147.1:c.1831del	ENSP00000500964.1:p.Val611Ter
ENST00000242839.8:c.2896del	ENSP00000242839.4:p.Val966Ter
ENST00000344297.8:c.2275del	ENSP00000342559.5:p.Val759Ter
ENST00000400366.5:c.2563del	ENSP00000383217.3:p.Val855Ter
ENST00000400370.8:c.1606del	ENSP00000383221.3:p.Val536Ter
ENST00000418097.7:c.2866-2157del	ENSP00000393343.2:n.2866-2157del
ENST00000448424.6:c.2662del	ENSP00000416738.2:p.Val888Ter
ENST00000466629.1:n.116del
ENST00000634296.1:c.857del
ENST00000634308.1:c.2682del	ENSP00000489234.1:p.Arg894SerfsTer?
ENST00000634620.1:n.3640del
ENST00000634810.1:n.2241del
ENST00000634844.1:c.2752del	ENSP00000489398.1:p.Val918Ter
ENST00000635406.1:n.242del
NM_000053.3:c.2896del	NP_000044.2:p.Val966Ter
NM_001005918.2:c.2275del	NP_001005918.1:p.Val759Ter
NM_001243182.1:c.2563del	NP_001230111.1:p.Val855Ter
XM_005266423.2:c.2800del	XP_005266480.1:p.Val934Ter
XM_005266424.3:c.2800del	XP_005266481.1:p.Val934Ter
XM_005266427.2:c.2662del	XP_005266484.1:p.Val888Ter
XM_005266428.1:c.2644del	XP_005266485.1:p.Val882Ter
XM_005266430.3:c.2896del	XP_005266487.1:p.Val966Ter
XM_005266431.2:c.2860del	XP_005266488.1:p.Val954Ter
XM_005266432.2:c.2410del	XP_005266489.1:p.Val804Ter
XM_006719837.2:c.2800del	XP_006719900.1:p.Val934Ter
XM_006719838.1:c.712del	XP_006719901.1:p.Val238Ter
XM_006719839.1:c.712del	XP_006719902.1:p.Val238Ter
XM_011535117.1:c.2800del	XP_011533419.1:p.Val934Ter
XM_011535118.1:c.2761del	XP_011533420.1:p.Val921Ter
XM_011535119.1:c.2896del	XP_011533421.1:p.Val966Ter
XM_011535120.1:c.2482del	XP_011533422.1:p.Val828Ter
XM_011535121.1:c.2730+3559del	XP_011533423.1:n.2730+3559del
XM_011535122.1:c.1564del	XP_011533424.1:p.Val522Ter
XR_941601.1:n.3115del
XR_941602.1:n.3115del
XR_941603.1:n.3115del
XR_941604.1:n.3115del
NM_001330578.1:c.2662del	NP_001317507.1:p.Val888Ter
NM_001330579.1:c.2644del	NP_001317508.1:p.Val882Ter
XM_005266424.4:c.2800del	XP_005266481.1:p.Val934Ter
XM_005266430.4:c.2896del	XP_005266487.1:p.Val966Ter
XM_005266431.4:c.2860del	XP_005266488.1:p.Val954Ter
XM_006719837.3:c.2800del	XP_006719900.1:p.Val934Ter
XM_011535117.3:c.2800del	XP_011533419.1:p.Val934Ter
XM_017020627.1:c.2800del	XP_016876116.1:p.Val934Ter
NM_000053.4:c.2896del MANE Select	NP_000044.2:p.Val966Ter
NM_001005918.3:c.2275del	NP_001005918.1:p.Val759Ter
NM_001330579.2:c.2644del	NP_001317508.1:p.Val882Ter
NM_001243182.2:c.2563del	NP_001230111.1:p.Val855Ter
NM_001330578.2:c.2662del	NP_001317507.1:p.Val888Ter