Canonical Allele Identifier: CA2623119172

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937447-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937450del , CM000675.2:g.51937450del	GRCh38
NC_000013.10:g.52511586del , CM000675.1:g.52511586del	GRCh37
NC_000013.9:g.51409587del	NCBI36
NG_008806.1:g.79047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1553+28del	ENSP00000489512.2:n.*1553+28del
ENST00000673864.2:c.*2647+28del	ENSP00000501045.2:n.*2647+28del
ENST00000674147.2:c.3282+28del	ENSP00000500964.2:n.3282+28del
ENST00000242839.10:c.3903+28del MANE Select	ENSP00000242839.5:n.3903+28del
ENST00000344297.9:c.3282+28del	ENSP00000342559.5:n.3282+28del
ENST00000400366.6:c.3570+28del	ENSP00000383217.3:n.3570+28del
ENST00000448424.7:c.3651+28del	ENSP00000416738.3:n.3651+28del
ENST00000673696.1:n.1172del
ENST00000673772.1:c.3669+28del	ENSP00000501168.1:n.3669+28del
ENST00000673867.1:n.4042+28del
ENST00000673923.1:n.769+28del
ENST00000674147.1:c.2838+28del	ENSP00000500964.1:n.2838+28del
ENST00000242839.8:c.3903+28del	ENSP00000242839.4:n.3903+28del
ENST00000344297.8:c.3282+28del	ENSP00000342559.5:n.3282+28del
ENST00000400366.5:c.3570+28del	ENSP00000383217.3:n.3570+28del
ENST00000400370.8:c.2613+28del	ENSP00000383221.3:n.2613+28del
ENST00000418097.7:c.3708+28del	ENSP00000393343.2:n.3708+28del
ENST00000448424.6:c.3669+28del	ENSP00000416738.2:n.3669+28del
ENST00000634296.1:c.1681+28del
ENST00000634308.1:c.*1004+28del	ENSP00000489234.1:n.*1004+28del
ENST00000634620.1:n.4647+28del
ENST00000634810.1:n.3248+28del
ENST00000634844.1:c.3759+28del	ENSP00000489398.1:n.3759+28del
NM_000053.3:c.3903+28del	NP_000044.2:n.3903+28del
NM_001005918.2:c.3282+28del	NP_001005918.1:n.3282+28del
NM_001243182.1:c.3570+28del	NP_001230111.1:n.3570+28del
XM_005266423.2:c.3807+28del	XP_005266480.1:n.3807+28del
XM_005266424.3:c.3807+28del	XP_005266481.1:n.3807+28del
XM_005266427.2:c.3669+28del	XP_005266484.1:n.3669+28del
XM_005266428.1:c.3651+28del	XP_005266485.1:n.3651+28del
XM_005266430.3:c.3903+28del	XP_005266487.1:n.3903+28del
XM_005266431.2:c.3867+28del	XP_005266488.1:n.3867+28del
XM_005266432.2:c.3417+28del	XP_005266489.1:n.3417+28del
XM_006719837.2:c.3807+28del	XP_006719900.1:n.3807+28del
XM_006719838.1:c.1719+28del	XP_006719901.1:n.1719+28del
XM_006719839.1:c.1536+28del	XP_006719902.1:n.1536+28del
XM_011535117.1:c.3807+28del	XP_011533419.1:n.3807+28del
XM_011535118.1:c.3768+28del	XP_011533420.1:n.3768+28del
XM_011535119.1:c.3720+28del	XP_011533421.1:n.3720+28del
XM_011535120.1:c.3489+28del	XP_011533422.1:n.3489+28del
XM_011535121.1:c.3390+28del	XP_011533423.1:n.3390+28del
XM_011535122.1:c.2571+28del	XP_011533424.1:n.2571+28del
XR_941601.1:n.4122+28del
XR_941602.1:n.4122+28del
XR_941603.1:n.4122+28del
XR_941604.1:n.4122+28del
NM_001330578.1:c.3669+28del	NP_001317507.1:n.3669+28del
NM_001330579.1:c.3651+28del	NP_001317508.1:n.3651+28del
XM_005266424.4:c.3807+28del	XP_005266481.1:n.3807+28del
XM_005266430.4:c.3903+28del	XP_005266487.1:n.3903+28del
XM_005266431.4:c.3867+28del	XP_005266488.1:n.3867+28del
XM_006719837.3:c.3807+28del	XP_006719900.1:n.3807+28del
XM_011535117.3:c.3807+28del	XP_011533419.1:n.3807+28del
XM_017020627.1:c.3807+28del	XP_016876116.1:n.3807+28del
NM_000053.4:c.3903+28del MANE Select	NP_000044.2:n.3903+28del
NM_001005918.3:c.3282+28del	NP_001005918.1:n.3282+28del
NM_001330579.2:c.3651+28del	NP_001317508.1:n.3651+28del
NM_001243182.2:c.3570+28del	NP_001230111.1:n.3570+28del
NM_001330578.2:c.3669+28del	NP_001317507.1:n.3669+28del