Canonical Allele Identifier: CA2091566106

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957644619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946269_51946272del , CM000675.2:g.51946269_51946272del	GRCh38
NC_000013.10:g.52520405_52520408del , CM000675.1:g.52520405_52520408del	GRCh37
NC_000013.9:g.51418406_51418409del	NCBI36
NG_008806.1:g.70224_70227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*893+13_*893+16del	ENSP00000489512.2:n.*893+13_*893+16del
ENST00000673864.2:c.*1804+13_*1804+16del	ENSP00000501045.2:n.*1804+13_*1804+16del
ENST00000674147.2:c.2439+13_2439+16del	ENSP00000500964.2:n.2439+13_2439+16del
ENST00000242839.10:c.3060+13_3060+16del MANE Select	ENSP00000242839.5:n.3060+13_3060+16del
ENST00000344297.9:c.2439+13_2439+16del	ENSP00000342559.5:n.2439+13_2439+16del
ENST00000400366.6:c.2727+13_2727+16del	ENSP00000383217.3:n.2727+13_2727+16del
ENST00000448424.7:c.2808+13_2808+16del	ENSP00000416738.3:n.2808+13_2808+16del
ENST00000673772.1:c.2826+13_2826+16del	ENSP00000501168.1:n.2826+13_2826+16del
ENST00000673867.1:n.1220_1223del
ENST00000674126.1:n.3423+13_3423+16del
ENST00000674147.1:c.1995+13_1995+16del	ENSP00000500964.1:n.1995+13_1995+16del
ENST00000242839.8:c.3060+13_3060+16del	ENSP00000242839.4:n.3060+13_3060+16del
ENST00000344297.8:c.2439+13_2439+16del	ENSP00000342559.5:n.2439+13_2439+16del
ENST00000400366.5:c.2727+13_2727+16del	ENSP00000383217.3:n.2727+13_2727+16del
ENST00000400370.8:c.1770+13_1770+16del	ENSP00000383221.3:n.1770+13_1770+16del
ENST00000418097.7:c.2866-1980_2866-1977del	ENSP00000393343.2:n.2866-1980_2866-1977del
ENST00000448424.6:c.2826+13_2826+16del	ENSP00000416738.2:n.2826+13_2826+16del
ENST00000466629.1:n.280+13_280+16del
ENST00000634296.1:c.1021+13_1021+16del
ENST00000634308.1:c.*161+13_*161+16del	ENSP00000489234.1:n.*161+13_*161+16del
ENST00000634620.1:n.3804+13_3804+16del
ENST00000634810.1:n.2405+13_2405+16del
ENST00000634844.1:c.2916+13_2916+16del	ENSP00000489398.1:n.2916+13_2916+16del
ENST00000635406.1:n.406+13_406+16del
NM_000053.3:c.3060+13_3060+16del	NP_000044.2:n.3060+13_3060+16del
NM_001005918.2:c.2439+13_2439+16del	NP_001005918.1:n.2439+13_2439+16del
NM_001243182.1:c.2727+13_2727+16del	NP_001230111.1:n.2727+13_2727+16del
XM_005266423.2:c.2964+13_2964+16del	XP_005266480.1:n.2964+13_2964+16del
XM_005266424.3:c.2964+13_2964+16del	XP_005266481.1:n.2964+13_2964+16del
XM_005266427.2:c.2826+13_2826+16del	XP_005266484.1:n.2826+13_2826+16del
XM_005266428.1:c.2808+13_2808+16del	XP_005266485.1:n.2808+13_2808+16del
XM_005266430.3:c.3060+13_3060+16del	XP_005266487.1:n.3060+13_3060+16del
XM_005266431.2:c.3024+13_3024+16del	XP_005266488.1:n.3024+13_3024+16del
XM_005266432.2:c.2574+13_2574+16del	XP_005266489.1:n.2574+13_2574+16del
XM_006719837.2:c.2964+13_2964+16del	XP_006719900.1:n.2964+13_2964+16del
XM_006719838.1:c.876+13_876+16del	XP_006719901.1:n.876+13_876+16del
XM_006719839.1:c.876+13_876+16del	XP_006719902.1:n.876+13_876+16del
XM_011535117.1:c.2964+13_2964+16del	XP_011533419.1:n.2964+13_2964+16del
XM_011535118.1:c.2925+13_2925+16del	XP_011533420.1:n.2925+13_2925+16del
XM_011535119.1:c.3060+13_3060+16del	XP_011533421.1:n.3060+13_3060+16del
XM_011535120.1:c.2646+13_2646+16del	XP_011533422.1:n.2646+13_2646+16del
XM_011535121.1:c.2731-3717_2731-3714del	XP_011533423.1:n.2731-3717_2731-3714del
XM_011535122.1:c.1728+13_1728+16del	XP_011533424.1:n.1728+13_1728+16del
XR_941601.1:n.3279+13_3279+16del
XR_941602.1:n.3279+13_3279+16del
XR_941603.1:n.3279+13_3279+16del
XR_941604.1:n.3279+13_3279+16del
NM_001330578.1:c.2826+13_2826+16del	NP_001317507.1:n.2826+13_2826+16del
NM_001330579.1:c.2808+13_2808+16del	NP_001317508.1:n.2808+13_2808+16del
XM_005266424.4:c.2964+13_2964+16del	XP_005266481.1:n.2964+13_2964+16del
XM_005266430.4:c.3060+13_3060+16del	XP_005266487.1:n.3060+13_3060+16del
XM_005266431.4:c.3024+13_3024+16del	XP_005266488.1:n.3024+13_3024+16del
XM_006719837.3:c.2964+13_2964+16del	XP_006719900.1:n.2964+13_2964+16del
XM_011535117.3:c.2964+13_2964+16del	XP_011533419.1:n.2964+13_2964+16del
XM_017020627.1:c.2964+13_2964+16del	XP_016876116.1:n.2964+13_2964+16del
NM_000053.4:c.3060+13_3060+16del MANE Select	NP_000044.2:n.3060+13_3060+16del
NM_001005918.3:c.2439+13_2439+16del	NP_001005918.1:n.2439+13_2439+16del
NM_001330579.2:c.2808+13_2808+16del	NP_001317508.1:n.2808+13_2808+16del
NM_001243182.2:c.2727+13_2727+16del	NP_001230111.1:n.2727+13_2727+16del
NM_001330578.2:c.2826+13_2826+16del	NP_001317507.1:n.2826+13_2826+16del