Canonical Allele Identifier: CA2695218790

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950083_51950109del , CM000675.2:g.51950083_51950109del	GRCh38
NC_000013.10:g.52524219_52524245del , CM000675.1:g.52524219_52524245del	GRCh37
NC_000013.9:g.51422220_51422246del	NCBI36
NG_008806.1:g.66388_66414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*463_*489del	ENSP00000489512.2:n.*463_*489del
ENST00000673864.2:c.*1374_*1400del	ENSP00000501045.2:n.*1374_*1400del
ENST00000674147.2:c.2144_2170del	ENSP00000500964.2:p.Ile715_Ile723del
ENST00000242839.10:c.2630_2656del MANE Select	ENSP00000242839.5:p.Ile877_Ile885del
ENST00000344297.9:c.2144_2170del	ENSP00000342559.5:p.Ile715_Ile723del
ENST00000400366.6:c.2297_2323del	ENSP00000383217.3:p.Ile766_Ile774del
ENST00000448424.7:c.2378_2404del	ENSP00000416738.3:p.Ile793_Ile801del
ENST00000673772.1:c.2396_2422del	ENSP00000501168.1:p.Ile799_Ile807del
ENST00000674147.1:c.1700_1726del	ENSP00000500964.1:p.Ile567_Ile575del
ENST00000242839.8:c.2630_2656del	ENSP00000242839.4:p.Ile877_Ile885del
ENST00000344297.8:c.2144_2170del	ENSP00000342559.5:p.Ile715_Ile723del
ENST00000400366.5:c.2297_2323del	ENSP00000383217.3:p.Ile766_Ile774del
ENST00000400370.8:c.1340_1366del	ENSP00000383221.3:p.Ile447_Ile455del
ENST00000418097.7:c.2630_2656del	ENSP00000393343.2:p.Ile877_Ile885del
ENST00000448424.6:c.2396_2422del	ENSP00000416738.2:p.Ile799_Ile807del
ENST00000634296.1:c.591_617del
ENST00000634308.1:c.2396_2422del	ENSP00000489234.1:p.Ile799_Ile807del
ENST00000634620.1:n.3428_3454del
ENST00000634810.1:n.1975_2001del
ENST00000634844.1:c.2486_2512del	ENSP00000489398.1:p.Ile829_Ile837del
ENST00000635406.1:n.212-3629_212-3603del
NM_000053.3:c.2630_2656del	NP_000044.2:p.Ile877_Ile885del
NM_001005918.2:c.2144_2170del	NP_001005918.1:p.Ile715_Ile723del
NM_001243182.1:c.2297_2323del	NP_001230111.1:p.Ile766_Ile774del
XM_005266423.2:c.2534_2560del	XP_005266480.1:p.Ile845_Ile853del
XM_005266424.3:c.2534_2560del	XP_005266481.1:p.Ile845_Ile853del
XM_005266427.2:c.2396_2422del	XP_005266484.1:p.Ile799_Ile807del
XM_005266428.1:c.2378_2404del	XP_005266485.1:p.Ile793_Ile801del
XM_005266430.3:c.2630_2656del	XP_005266487.1:p.Ile877_Ile885del
XM_005266431.2:c.2594_2620del	XP_005266488.1:p.Ile865_Ile873del
XM_005266432.2:c.2144_2170del	XP_005266489.1:p.Ile715_Ile723del
XM_006719837.2:c.2534_2560del	XP_006719900.1:p.Ile845_Ile853del
XM_006719838.1:c.446_472del	XP_006719901.1:p.Ile149_Ile157del
XM_006719839.1:c.446_472del	XP_006719902.1:p.Ile149_Ile157del
XM_011535117.1:c.2534_2560del	XP_011533419.1:p.Ile845_Ile853del
XM_011535118.1:c.2630_2656del	XP_011533420.1:p.Ile877_Ile885del
XM_011535119.1:c.2630_2656del	XP_011533421.1:p.Ile877_Ile885del
XM_011535120.1:c.2216_2242del	XP_011533422.1:p.Ile739_Ile747del
XM_011535121.1:c.2630_2656del	XP_011533423.1:p.Ile877_Ile885del
XM_011535122.1:c.1298_1324del	XP_011533424.1:p.Ile433_Ile441del
XR_941601.1:n.2849_2875del
XR_941602.1:n.2849_2875del
XR_941603.1:n.2849_2875del
XR_941604.1:n.2849_2875del
NM_001330578.1:c.2396_2422del	NP_001317507.1:p.Ile799_Ile807del
NM_001330579.1:c.2378_2404del	NP_001317508.1:p.Ile793_Ile801del
XM_005266424.4:c.2534_2560del	XP_005266481.1:p.Ile845_Ile853del
XM_005266430.4:c.2630_2656del	XP_005266487.1:p.Ile877_Ile885del
XM_005266431.4:c.2594_2620del	XP_005266488.1:p.Ile865_Ile873del
XM_006719837.3:c.2534_2560del	XP_006719900.1:p.Ile845_Ile853del
XM_011535117.3:c.2534_2560del	XP_011533419.1:p.Ile845_Ile853del
XM_017020627.1:c.2534_2560del	XP_016876116.1:p.Ile845_Ile853del
NM_000053.4:c.2630_2656del MANE Select	NP_000044.2:p.Ile877_Ile885del
NM_001005918.3:c.2144_2170del	NP_001005918.1:p.Ile715_Ile723del
NM_001330579.2:c.2378_2404del	NP_001317508.1:p.Ile793_Ile801del
NM_001243182.2:c.2297_2323del	NP_001230111.1:p.Ile766_Ile774del
NM_001330578.2:c.2396_2422del	NP_001317507.1:p.Ile799_Ile807del