Canonical Allele Identifier: CA2091566181

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946390_51946391delinsCA , CM000675.2:g.51946390_51946391delinsCA	GRCh38
NC_000013.10:g.52520526_52520527delinsCA , CM000675.1:g.52520526_52520527delinsCA	GRCh37
NC_000013.9:g.51418527_51418528delinsCA	NCBI36
NG_008806.1:g.70104_70105delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*786_*787delinsTG	ENSP00000489512.2:n.*786_*787delinsTG
ENST00000673864.2:c.*1697_*1698delinsTG	ENSP00000501045.2:n.*1697_*1698delinsTG
ENST00000674147.2:c.2332_2333delinsTG	ENSP00000500964.2:p.Cys778=
ENST00000242839.10:c.2953_2954delinsTG MANE Select	ENSP00000242839.5:p.Cys985=
ENST00000344297.9:c.2332_2333delinsTG	ENSP00000342559.5:p.Cys778=
ENST00000400366.6:c.2620_2621delinsTG	ENSP00000383217.3:p.Cys874=
ENST00000448424.7:c.2701_2702delinsTG	ENSP00000416738.3:p.Cys901=
ENST00000673772.1:c.2719_2720delinsTG	ENSP00000501168.1:p.Cys907=
ENST00000673867.1:n.1100_1101delinsTG
ENST00000674126.1:n.3316_3317delinsTG
ENST00000674147.1:c.1888_1889delinsTG	ENSP00000500964.1:p.Cys630=
ENST00000242839.8:c.2953_2954delinsTG	ENSP00000242839.4:p.Cys985=
ENST00000344297.8:c.2332_2333delinsTG	ENSP00000342559.5:p.Cys778=
ENST00000400366.5:c.2620_2621delinsTG	ENSP00000383217.3:p.Cys874=
ENST00000400370.8:c.1663_1664delinsTG	ENSP00000383221.3:p.Cys555=
ENST00000418097.7:c.2866-2100_2866-2099delinsTG	ENSP00000393343.2:n.2866-2100_2866-2099delinsTG
ENST00000448424.6:c.2719_2720delinsTG	ENSP00000416738.2:p.Cys907=
ENST00000466629.1:n.173_174delinsTG
ENST00000634296.1:c.914_915delinsTG
ENST00000634308.1:c.*54_*55delinsTG	ENSP00000489234.1:n.*54_*55delinsTG
ENST00000634620.1:n.3697_3698delinsTG
ENST00000634810.1:n.2298_2299delinsTG
ENST00000634844.1:c.2809_2810delinsTG	ENSP00000489398.1:p.Cys937=
ENST00000635406.1:n.299_300delinsTG
NM_000053.3:c.2953_2954delinsTG	NP_000044.2:p.Cys985=
NM_001005918.2:c.2332_2333delinsTG	NP_001005918.1:p.Cys778=
NM_001243182.1:c.2620_2621delinsTG	NP_001230111.1:p.Cys874=
XM_005266423.2:c.2857_2858delinsTG	XP_005266480.1:p.Cys953=
XM_005266424.3:c.2857_2858delinsTG	XP_005266481.1:p.Cys953=
XM_005266427.2:c.2719_2720delinsTG	XP_005266484.1:p.Cys907=
XM_005266428.1:c.2701_2702delinsTG	XP_005266485.1:p.Cys901=
XM_005266430.3:c.2953_2954delinsTG	XP_005266487.1:p.Cys985=
XM_005266431.2:c.2917_2918delinsTG	XP_005266488.1:p.Cys973=
XM_005266432.2:c.2467_2468delinsTG	XP_005266489.1:p.Cys823=
XM_006719837.2:c.2857_2858delinsTG	XP_006719900.1:p.Cys953=
XM_006719838.1:c.769_770delinsTG	XP_006719901.1:p.Cys257=
XM_006719839.1:c.769_770delinsTG	XP_006719902.1:p.Cys257=
XM_011535117.1:c.2857_2858delinsTG	XP_011533419.1:p.Cys953=
XM_011535118.1:c.2818_2819delinsTG	XP_011533420.1:p.Cys940=
XM_011535119.1:c.2953_2954delinsTG	XP_011533421.1:p.Cys985=
XM_011535120.1:c.2539_2540delinsTG	XP_011533422.1:p.Cys847=
XM_011535121.1:c.2730+3616_2730+3617delinsTG	XP_011533423.1:n.2730+3616_2730+3617delinsTG
XM_011535122.1:c.1621_1622delinsTG	XP_011533424.1:p.Cys541=
XR_941601.1:n.3172_3173delinsTG
XR_941602.1:n.3172_3173delinsTG
XR_941603.1:n.3172_3173delinsTG
XR_941604.1:n.3172_3173delinsTG
NM_001330578.1:c.2719_2720delinsTG	NP_001317507.1:p.Cys907=
NM_001330579.1:c.2701_2702delinsTG	NP_001317508.1:p.Cys901=
XM_005266424.4:c.2857_2858delinsTG	XP_005266481.1:p.Cys953=
XM_005266430.4:c.2953_2954delinsTG	XP_005266487.1:p.Cys985=
XM_005266431.4:c.2917_2918delinsTG	XP_005266488.1:p.Cys973=
XM_006719837.3:c.2857_2858delinsTG	XP_006719900.1:p.Cys953=
XM_011535117.3:c.2857_2858delinsTG	XP_011533419.1:p.Cys953=
XM_017020627.1:c.2857_2858delinsTG	XP_016876116.1:p.Cys953=
NM_000053.4:c.2953_2954delinsTG MANE Select	NP_000044.2:p.Cys985=
NM_001005918.3:c.2332_2333delinsTG	NP_001005918.1:p.Cys778=
NM_001330579.2:c.2701_2702delinsTG	NP_001317508.1:p.Cys901=
NM_001243182.2:c.2620_2621delinsTG	NP_001230111.1:p.Cys874=
NM_001330578.2:c.2719_2720delinsTG	NP_001317507.1:p.Cys907=