Canonical Allele Identifier: CA2623118209

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51935468-GCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935475_51935524del , CM000675.2:g.51935475_51935524del	GRCh38
NC_000013.10:g.52509611_52509660del , CM000675.1:g.52509611_52509660del	GRCh37
NC_000013.9:g.51407612_51407661del	NCBI36
NG_008806.1:g.80977_81026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1774+75_*1774+124del	ENSP00000489512.2:n.*1774+75_*1774+124del
ENST00000673864.2:c.*2868+75_*2868+124del	ENSP00000501045.2:n.*2868+75_*2868+124del
ENST00000674147.2:c.3503+75_3503+124del	ENSP00000500964.2:n.3503+75_3503+124del
ENST00000242839.10:c.4124+75_4124+124del MANE Select	ENSP00000242839.5:n.4124+75_4124+124del
ENST00000344297.9:c.3503+75_3503+124del	ENSP00000342559.5:n.3503+75_3503+124del
ENST00000400366.6:c.3791+75_3791+124del	ENSP00000383217.3:n.3791+75_3791+124del
ENST00000448424.7:c.3872+75_3872+124del	ENSP00000416738.3:n.3872+75_3872+124del
ENST00000673696.1:n.1447+75_1447+124del
ENST00000673772.1:c.3890+75_3890+124del	ENSP00000501168.1:n.3890+75_3890+124del
ENST00000673867.1:n.4263+75_4263+124del
ENST00000673923.1:n.990+75_990+124del
ENST00000674147.1:c.3059+75_3059+124del	ENSP00000500964.1:n.3059+75_3059+124del
ENST00000242839.8:c.4124+75_4124+124del	ENSP00000242839.4:n.4124+75_4124+124del
ENST00000344297.8:c.3503+75_3503+124del	ENSP00000342559.5:n.3503+75_3503+124del
ENST00000400366.5:c.3791+75_3791+124del	ENSP00000383217.3:n.3791+75_3791+124del
ENST00000400370.8:c.2834+75_2834+124del	ENSP00000383221.3:n.2834+75_2834+124del
ENST00000418097.7:c.3929+75_3929+124del	ENSP00000393343.2:n.3929+75_3929+124del
ENST00000448424.6:c.3890+75_3890+124del	ENSP00000416738.2:n.3890+75_3890+124del
ENST00000634296.1:c.1902+75_1902+124del
ENST00000634308.1:c.*1225+75_*1225+124del	ENSP00000489234.1:n.*1225+75_*1225+124del
ENST00000634620.1:n.4868+75_4868+124del
ENST00000634810.1:n.3469+75_3469+124del
ENST00000634844.1:c.3980+75_3980+124del	ENSP00000489398.1:n.3980+75_3980+124del
NM_000053.3:c.4124+75_4124+124del	NP_000044.2:n.4124+75_4124+124del
NM_001005918.2:c.3503+75_3503+124del	NP_001005918.1:n.3503+75_3503+124del
NM_001243182.1:c.3791+75_3791+124del	NP_001230111.1:n.3791+75_3791+124del
XM_005266423.2:c.4028+75_4028+124del	XP_005266480.1:n.4028+75_4028+124del
XM_005266424.3:c.4028+75_4028+124del	XP_005266481.1:n.4028+75_4028+124del
XM_005266427.2:c.3890+75_3890+124del	XP_005266484.1:n.3890+75_3890+124del
XM_005266428.1:c.3872+75_3872+124del	XP_005266485.1:n.3872+75_3872+124del
XM_005266430.3:c.4124+75_4124+124del	XP_005266487.1:n.4124+75_4124+124del
XM_005266431.2:c.4088+75_4088+124del	XP_005266488.1:n.4088+75_4088+124del
XM_005266432.2:c.3638+75_3638+124del	XP_005266489.1:n.3638+75_3638+124del
XM_006719837.2:c.4028+75_4028+124del	XP_006719900.1:n.4028+75_4028+124del
XM_006719838.1:c.1940+75_1940+124del	XP_006719901.1:n.1940+75_1940+124del
XM_006719839.1:c.1757+75_1757+124del	XP_006719902.1:n.1757+75_1757+124del
XM_011535117.1:c.4028+75_4028+124del	XP_011533419.1:n.4028+75_4028+124del
XM_011535118.1:c.3989+75_3989+124del	XP_011533420.1:n.3989+75_3989+124del
XM_011535119.1:c.3941+75_3941+124del	XP_011533421.1:n.3941+75_3941+124del
XM_011535120.1:c.3710+75_3710+124del	XP_011533422.1:n.3710+75_3710+124del
XM_011535121.1:c.3611+75_3611+124del	XP_011533423.1:n.3611+75_3611+124del
XM_011535122.1:c.2792+75_2792+124del	XP_011533424.1:n.2792+75_2792+124del
XR_941601.1:n.4343+75_4343+124del
XR_941602.1:n.4343+75_4343+124del
XR_941603.1:n.4343+75_4343+124del
XR_941604.1:n.4343+75_4343+124del
NM_001330578.1:c.3890+75_3890+124del	NP_001317507.1:n.3890+75_3890+124del
NM_001330579.1:c.3872+75_3872+124del	NP_001317508.1:n.3872+75_3872+124del
XM_005266424.4:c.4028+75_4028+124del	XP_005266481.1:n.4028+75_4028+124del
XM_005266430.4:c.4124+75_4124+124del	XP_005266487.1:n.4124+75_4124+124del
XM_005266431.4:c.4088+75_4088+124del	XP_005266488.1:n.4088+75_4088+124del
XM_006719837.3:c.4028+75_4028+124del	XP_006719900.1:n.4028+75_4028+124del
XM_011535117.3:c.4028+75_4028+124del	XP_011533419.1:n.4028+75_4028+124del
XM_017020627.1:c.4028+75_4028+124del	XP_016876116.1:n.4028+75_4028+124del
NM_000053.4:c.4124+75_4124+124del MANE Select	NP_000044.2:n.4124+75_4124+124del
NM_001005918.3:c.3503+75_3503+124del	NP_001005918.1:n.3503+75_3503+124del
NM_001330579.2:c.3872+75_3872+124del	NP_001317508.1:n.3872+75_3872+124del
NM_001243182.2:c.3791+75_3791+124del	NP_001230111.1:n.3791+75_3791+124del
NM_001330578.2:c.3890+75_3890+124del	NP_001317507.1:n.3890+75_3890+124del