Canonical Allele Identifier: CA2499222479

Gene: ATP7B

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950351_51950352delinsTC , CM000675.2:g.51950351_51950352delinsTC	GRCh38
NC_000013.10:g.52524487_52524488delinsTC , CM000675.1:g.52524487_52524488delinsTC	GRCh37
NC_000013.9:g.51422488_51422489delinsTC	NCBI36
NG_008806.1:g.66143_66144delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*328_*329delinsGA	ENSP00000489512.2:n.*328_*329delinsGA
ENST00000673864.2:c.*1239_*1240delinsGA	ENSP00000501045.2:n.*1239_*1240delinsGA
ENST00000674147.2:c.2009_2010delinsGA	ENSP00000500964.2:p.Lys670Arg
ENST00000242839.10:c.2495_2496delinsGA MANE Select	ENSP00000242839.5:p.Lys832Arg
ENST00000344297.9:c.2009_2010delinsGA	ENSP00000342559.5:p.Lys670Arg
ENST00000400366.6:c.2162_2163delinsGA	ENSP00000383217.3:p.Lys721Arg
ENST00000448424.7:c.2243_2244delinsGA	ENSP00000416738.3:p.Lys748Arg
ENST00000673772.1:c.2261_2262delinsGA	ENSP00000501168.1:p.Lys754Arg
ENST00000674147.1:c.1565_1566delinsGA	ENSP00000500964.1:p.Lys522Arg
ENST00000242839.8:c.2495_2496delinsGA	ENSP00000242839.4:p.Lys832Arg
ENST00000344297.8:c.2009_2010delinsGA	ENSP00000342559.5:p.Lys670Arg
ENST00000400366.5:c.2162_2163delinsGA	ENSP00000383217.3:p.Lys721Arg
ENST00000400370.8:c.1286-191_1286-190delinsGA	ENSP00000383221.3:n.1286-191_1286-190delinsGA
ENST00000418097.7:c.2495_2496delinsGA	ENSP00000393343.2:p.Lys832Arg
ENST00000448424.6:c.2261_2262delinsGA	ENSP00000416738.2:p.Lys754Arg
ENST00000634296.1:c.456_457delinsGA
ENST00000634308.1:c.2261_2262delinsGA	ENSP00000489234.1:p.Lys754Arg
ENST00000634620.1:n.3293_3294delinsGA
ENST00000634810.1:n.1840_1841delinsGA
ENST00000634844.1:c.2351_2352delinsGA	ENSP00000489398.1:p.Lys784Arg
ENST00000635406.1:n.212-3874_212-3873delinsGA
NM_000053.3:c.2495_2496delinsGA	NP_000044.2:p.Lys832Arg
NM_001005918.2:c.2009_2010delinsGA	NP_001005918.1:p.Lys670Arg
NM_001243182.1:c.2162_2163delinsGA	NP_001230111.1:p.Lys721Arg
XM_005266423.2:c.2399_2400delinsGA	XP_005266480.1:p.Lys800Arg
XM_005266424.3:c.2399_2400delinsGA	XP_005266481.1:p.Lys800Arg
XM_005266427.2:c.2261_2262delinsGA	XP_005266484.1:p.Lys754Arg
XM_005266428.1:c.2243_2244delinsGA	XP_005266485.1:p.Lys748Arg
XM_005266430.3:c.2495_2496delinsGA	XP_005266487.1:p.Lys832Arg
XM_005266431.2:c.2459_2460delinsGA	XP_005266488.1:p.Lys820Arg
XM_005266432.2:c.2009_2010delinsGA	XP_005266489.1:p.Lys670Arg
XM_006719837.2:c.2399_2400delinsGA	XP_006719900.1:p.Lys800Arg
XM_006719838.1:c.311_312delinsGA	XP_006719901.1:p.Lys104Arg
XM_006719839.1:c.311_312delinsGA	XP_006719902.1:p.Lys104Arg
XM_011535117.1:c.2399_2400delinsGA	XP_011533419.1:p.Lys800Arg
XM_011535118.1:c.2495_2496delinsGA	XP_011533420.1:p.Lys832Arg
XM_011535119.1:c.2495_2496delinsGA	XP_011533421.1:p.Lys832Arg
XM_011535120.1:c.2081_2082delinsGA	XP_011533422.1:p.Lys694Arg
XM_011535121.1:c.2495_2496delinsGA	XP_011533423.1:p.Lys832Arg
XM_011535122.1:c.1163_1164delinsGA	XP_011533424.1:p.Lys388Arg
XR_941601.1:n.2714_2715delinsGA
XR_941602.1:n.2714_2715delinsGA
XR_941603.1:n.2714_2715delinsGA
XR_941604.1:n.2714_2715delinsGA
NM_001330578.1:c.2261_2262delinsGA	NP_001317507.1:p.Lys754Arg
NM_001330579.1:c.2243_2244delinsGA	NP_001317508.1:p.Lys748Arg
XM_005266424.4:c.2399_2400delinsGA	XP_005266481.1:p.Lys800Arg
XM_005266430.4:c.2495_2496delinsGA	XP_005266487.1:p.Lys832Arg
XM_005266431.4:c.2459_2460delinsGA	XP_005266488.1:p.Lys820Arg
XM_006719837.3:c.2399_2400delinsGA	XP_006719900.1:p.Lys800Arg
XM_011535117.3:c.2399_2400delinsGA	XP_011533419.1:p.Lys800Arg
XM_017020627.1:c.2399_2400delinsGA	XP_016876116.1:p.Lys800Arg
NM_000053.4:c.2495_2496delinsGA MANE Select	NP_000044.2:p.Lys832Arg
NM_001005918.3:c.2009_2010delinsGA	NP_001005918.1:p.Lys670Arg
NM_001330579.2:c.2243_2244delinsGA	NP_001317508.1:p.Lys748Arg
NM_001243182.2:c.2162_2163delinsGA	NP_001230111.1:p.Lys721Arg
NM_001330578.2:c.2261_2262delinsGA	NP_001317507.1:p.Lys754Arg