Canonical Allele Identifier: CA2580087692

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1726023
• ClinVar RCV Id: RCV002306994

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950064del , CM000675.2:g.51950064del	GRCh38
NC_000013.10:g.52524200del , CM000675.1:g.52524200del	GRCh37
NC_000013.9:g.51422201del	NCBI36
NG_008806.1:g.66431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*506del	ENSP00000489512.2:n.*506del
ENST00000673864.2:c.*1417del	ENSP00000501045.2:n.*1417del
ENST00000674147.2:c.2187del	ENSP00000500964.2:p.Asn730MetfsTer9
ENST00000242839.10:c.2673del MANE Select	ENSP00000242839.5:p.Asn892MetfsTer9
ENST00000344297.9:c.2187del	ENSP00000342559.5:p.Asn730MetfsTer9
ENST00000400366.6:c.2340del	ENSP00000383217.3:p.Asn781MetfsTer9
ENST00000448424.7:c.2421del	ENSP00000416738.3:p.Asn808MetfsTer9
ENST00000673772.1:c.2439del	ENSP00000501168.1:p.Asn814MetfsTer9
ENST00000674147.1:c.1743del	ENSP00000500964.1:p.Asn582MetfsTer9
ENST00000242839.8:c.2673del	ENSP00000242839.4:p.Asn892MetfsTer9
ENST00000344297.8:c.2187del	ENSP00000342559.5:p.Asn730MetfsTer9
ENST00000400366.5:c.2340del	ENSP00000383217.3:p.Asn781MetfsTer9
ENST00000400370.8:c.1383del	ENSP00000383221.3:p.Asn462MetfsTer9
ENST00000418097.7:c.2673del	ENSP00000393343.2:p.Asn892MetfsTer9
ENST00000448424.6:c.2439del	ENSP00000416738.2:p.Asn814MetfsTer9
ENST00000634296.1:c.634del
ENST00000634308.1:c.2439del	ENSP00000489234.1:p.Asn814MetfsTer9
ENST00000634620.1:n.3471del
ENST00000634810.1:n.2018del
ENST00000634844.1:c.2529del	ENSP00000489398.1:p.Asn844MetfsTer9
ENST00000635406.1:n.212-3586del
NM_000053.3:c.2673del	NP_000044.2:p.Asn892MetfsTer9
NM_001005918.2:c.2187del	NP_001005918.1:p.Asn730MetfsTer9
NM_001243182.1:c.2340del	NP_001230111.1:p.Asn781MetfsTer9
XM_005266423.2:c.2577del	XP_005266480.1:p.Asn860MetfsTer9
XM_005266424.3:c.2577del	XP_005266481.1:p.Asn860MetfsTer9
XM_005266427.2:c.2439del	XP_005266484.1:p.Asn814MetfsTer9
XM_005266428.1:c.2421del	XP_005266485.1:p.Asn808MetfsTer9
XM_005266430.3:c.2673del	XP_005266487.1:p.Asn892MetfsTer9
XM_005266431.2:c.2637del	XP_005266488.1:p.Asn880MetfsTer9
XM_005266432.2:c.2187del	XP_005266489.1:p.Asn730MetfsTer9
XM_006719837.2:c.2577del	XP_006719900.1:p.Asn860MetfsTer9
XM_006719838.1:c.489del	XP_006719901.1:p.Asn164MetfsTer9
XM_006719839.1:c.489del	XP_006719902.1:p.Asn164MetfsTer9
XM_011535117.1:c.2577del	XP_011533419.1:p.Asn860MetfsTer9
XM_011535118.1:c.2673del	XP_011533420.1:p.Asn892MetfsTer9
XM_011535119.1:c.2673del	XP_011533421.1:p.Asn892MetfsTer9
XM_011535120.1:c.2259del	XP_011533422.1:p.Asn754MetfsTer9
XM_011535121.1:c.2673del	XP_011533423.1:p.Asn892MetfsTer9
XM_011535122.1:c.1341del	XP_011533424.1:p.Asn448MetfsTer9
XR_941601.1:n.2892del
XR_941602.1:n.2892del
XR_941603.1:n.2892del
XR_941604.1:n.2892del
NM_001330578.1:c.2439del	NP_001317507.1:p.Asn814MetfsTer9
NM_001330579.1:c.2421del	NP_001317508.1:p.Asn808MetfsTer9
XM_005266424.4:c.2577del	XP_005266481.1:p.Asn860MetfsTer9
XM_005266430.4:c.2673del	XP_005266487.1:p.Asn892MetfsTer9
XM_005266431.4:c.2637del	XP_005266488.1:p.Asn880MetfsTer9
XM_006719837.3:c.2577del	XP_006719900.1:p.Asn860MetfsTer9
XM_011535117.3:c.2577del	XP_011533419.1:p.Asn860MetfsTer9
XM_017020627.1:c.2577del	XP_016876116.1:p.Asn860MetfsTer9
NM_000053.4:c.2673del MANE Select	NP_000044.2:p.Asn892MetfsTer9
NM_001005918.3:c.2187del	NP_001005918.1:p.Asn730MetfsTer9
NM_001330579.2:c.2421del	NP_001317508.1:p.Asn808MetfsTer9
NM_001243182.2:c.2340del	NP_001230111.1:p.Asn781MetfsTer9
NM_001330578.2:c.2439del	NP_001317507.1:p.Asn814MetfsTer9