Canonical Allele Identifier: CA956031991

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957639082
• gnomAD v3: 13-51946192-TGA-T
• gnomAD v4: 13-51946192-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946194_51946195del , CM000675.2:g.51946194_51946195del	GRCh38
NC_000013.10:g.52520330_52520331del , CM000675.1:g.52520330_52520331del	GRCh37
NC_000013.9:g.51418331_51418332del	NCBI36
NG_008806.1:g.70301_70302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*893+90_*893+91del	ENSP00000489512.2:n.*893+90_*893+91del
ENST00000673864.2:c.*1804+90_*1804+91del	ENSP00000501045.2:n.*1804+90_*1804+91del
ENST00000674147.2:c.2439+90_2439+91del	ENSP00000500964.2:n.2439+90_2439+91del
ENST00000242839.10:c.3060+90_3060+91del MANE Select	ENSP00000242839.5:n.3060+90_3060+91del
ENST00000344297.9:c.2439+90_2439+91del	ENSP00000342559.5:n.2439+90_2439+91del
ENST00000400366.6:c.2727+90_2727+91del	ENSP00000383217.3:n.2727+90_2727+91del
ENST00000448424.7:c.2808+90_2808+91del	ENSP00000416738.3:n.2808+90_2808+91del
ENST00000673772.1:c.2826+90_2826+91del	ENSP00000501168.1:n.2826+90_2826+91del
ENST00000673867.1:n.1297_1298del
ENST00000674126.1:n.3423+90_3423+91del
ENST00000674147.1:c.1995+90_1995+91del	ENSP00000500964.1:n.1995+90_1995+91del
ENST00000242839.8:c.3060+90_3060+91del	ENSP00000242839.4:n.3060+90_3060+91del
ENST00000344297.8:c.2439+90_2439+91del	ENSP00000342559.5:n.2439+90_2439+91del
ENST00000400366.5:c.2727+90_2727+91del	ENSP00000383217.3:n.2727+90_2727+91del
ENST00000400370.8:c.1770+90_1770+91del	ENSP00000383221.3:n.1770+90_1770+91del
ENST00000418097.7:c.2866-1903_2866-1902del	ENSP00000393343.2:n.2866-1903_2866-1902del
ENST00000448424.6:c.2826+90_2826+91del	ENSP00000416738.2:n.2826+90_2826+91del
ENST00000466629.1:n.280+90_280+91del
ENST00000634296.1:c.1021+90_1021+91del
ENST00000634308.1:c.*161+90_*161+91del	ENSP00000489234.1:n.*161+90_*161+91del
ENST00000634620.1:n.3804+90_3804+91del
ENST00000634810.1:n.2405+90_2405+91del
ENST00000634844.1:c.2916+90_2916+91del	ENSP00000489398.1:n.2916+90_2916+91del
ENST00000635406.1:n.406+90_406+91del
NM_000053.3:c.3060+90_3060+91del	NP_000044.2:n.3060+90_3060+91del
NM_001005918.2:c.2439+90_2439+91del	NP_001005918.1:n.2439+90_2439+91del
NM_001243182.1:c.2727+90_2727+91del	NP_001230111.1:n.2727+90_2727+91del
XM_005266423.2:c.2964+90_2964+91del	XP_005266480.1:n.2964+90_2964+91del
XM_005266424.3:c.2964+90_2964+91del	XP_005266481.1:n.2964+90_2964+91del
XM_005266427.2:c.2826+90_2826+91del	XP_005266484.1:n.2826+90_2826+91del
XM_005266428.1:c.2808+90_2808+91del	XP_005266485.1:n.2808+90_2808+91del
XM_005266430.3:c.3060+90_3060+91del	XP_005266487.1:n.3060+90_3060+91del
XM_005266431.2:c.3024+90_3024+91del	XP_005266488.1:n.3024+90_3024+91del
XM_005266432.2:c.2574+90_2574+91del	XP_005266489.1:n.2574+90_2574+91del
XM_006719837.2:c.2964+90_2964+91del	XP_006719900.1:n.2964+90_2964+91del
XM_006719838.1:c.876+90_876+91del	XP_006719901.1:n.876+90_876+91del
XM_006719839.1:c.876+90_876+91del	XP_006719902.1:n.876+90_876+91del
XM_011535117.1:c.2964+90_2964+91del	XP_011533419.1:n.2964+90_2964+91del
XM_011535118.1:c.2925+90_2925+91del	XP_011533420.1:n.2925+90_2925+91del
XM_011535119.1:c.3060+90_3060+91del	XP_011533421.1:n.3060+90_3060+91del
XM_011535120.1:c.2646+90_2646+91del	XP_011533422.1:n.2646+90_2646+91del
XM_011535121.1:c.2731-3640_2731-3639del	XP_011533423.1:n.2731-3640_2731-3639del
XM_011535122.1:c.1728+90_1728+91del	XP_011533424.1:n.1728+90_1728+91del
XR_941601.1:n.3279+90_3279+91del
XR_941602.1:n.3279+90_3279+91del
XR_941603.1:n.3279+90_3279+91del
XR_941604.1:n.3279+90_3279+91del
NM_001330578.1:c.2826+90_2826+91del	NP_001317507.1:n.2826+90_2826+91del
NM_001330579.1:c.2808+90_2808+91del	NP_001317508.1:n.2808+90_2808+91del
XM_005266424.4:c.2964+90_2964+91del	XP_005266481.1:n.2964+90_2964+91del
XM_005266430.4:c.3060+90_3060+91del	XP_005266487.1:n.3060+90_3060+91del
XM_005266431.4:c.3024+90_3024+91del	XP_005266488.1:n.3024+90_3024+91del
XM_006719837.3:c.2964+90_2964+91del	XP_006719900.1:n.2964+90_2964+91del
XM_011535117.3:c.2964+90_2964+91del	XP_011533419.1:n.2964+90_2964+91del
XM_017020627.1:c.2964+90_2964+91del	XP_016876116.1:n.2964+90_2964+91del
NM_000053.4:c.3060+90_3060+91del MANE Select	NP_000044.2:n.3060+90_3060+91del
NM_001005918.3:c.2439+90_2439+91del	NP_001005918.1:n.2439+90_2439+91del
NM_001330579.2:c.2808+90_2808+91del	NP_001317508.1:n.2808+90_2808+91del
NM_001243182.2:c.2727+90_2727+91del	NP_001230111.1:n.2727+90_2727+91del
NM_001330578.2:c.2826+90_2826+91del	NP_001317507.1:n.2826+90_2826+91del