Canonical Allele Identifier: CA2695218780

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2736040
• ClinVar RCV Id: RCV003504572

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939184_51939185del , CM000675.2:g.51939184_51939185del	GRCh38
NC_000013.10:g.52513320_52513321del , CM000675.1:g.52513320_52513321del	GRCh37
NC_000013.9:g.51411321_51411322del	NCBI36
NG_008806.1:g.77312_77313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1217_*1218del	ENSP00000489512.2:n.*1217_*1218del
ENST00000673864.2:c.*2311_*2312del	ENSP00000501045.2:n.*2311_*2312del
ENST00000674147.2:c.2946_2947del	ENSP00000500964.2:p.Cys982TrpfsTer?
ENST00000242839.10:c.3567_3568del MANE Select	ENSP00000242839.5:p.Cys1189TrpfsTer?
ENST00000344297.9:c.2946_2947del	ENSP00000342559.5:p.Cys982TrpfsTer?
ENST00000400366.6:c.3234_3235del	ENSP00000383217.3:p.Cys1078TrpfsTer?
ENST00000448424.7:c.3315_3316del	ENSP00000416738.3:p.Cys1105TrpfsTer?
ENST00000673696.1:n.808_809del
ENST00000673772.1:c.3333_3334del	ENSP00000501168.1:p.Cys1111TrpfsTer?
ENST00000673867.1:n.3706_3707del
ENST00000673923.1:n.433_434del
ENST00000674147.1:c.2502_2503del	ENSP00000500964.1:p.Cys834TrpfsTer?
ENST00000242839.8:c.3567_3568del	ENSP00000242839.4:p.Cys1189TrpfsTer?
ENST00000344297.8:c.2946_2947del	ENSP00000342559.5:p.Cys982TrpfsTer?
ENST00000400366.5:c.3234_3235del	ENSP00000383217.3:p.Cys1078TrpfsTer?
ENST00000400370.8:c.2277_2278del	ENSP00000383221.3:p.Cys759TrpfsTer?
ENST00000418097.7:c.3372_3373del	ENSP00000393343.2:p.Cys1124TrpfsTer?
ENST00000448424.6:c.3333_3334del	ENSP00000416738.2:p.Cys1111TrpfsTer?
ENST00000634296.1:c.1345_1346del
ENST00000634308.1:c.*668_*669del	ENSP00000489234.1:n.*668_*669del
ENST00000634620.1:n.4311_4312del
ENST00000634810.1:n.2912_2913del
ENST00000634844.1:c.3423_3424del	ENSP00000489398.1:p.Cys1141TrpfsTer?
NM_000053.3:c.3567_3568del	NP_000044.2:p.Cys1189TrpfsTer?
NM_001005918.2:c.2946_2947del	NP_001005918.1:p.Cys982TrpfsTer?
NM_001243182.1:c.3234_3235del	NP_001230111.1:p.Cys1078TrpfsTer?
XM_005266423.2:c.3471_3472del	XP_005266480.1:p.Cys1157TrpfsTer?
XM_005266424.3:c.3471_3472del	XP_005266481.1:p.Cys1157TrpfsTer?
XM_005266427.2:c.3333_3334del	XP_005266484.1:p.Cys1111TrpfsTer?
XM_005266428.1:c.3315_3316del	XP_005266485.1:p.Cys1105TrpfsTer?
XM_005266430.3:c.3567_3568del	XP_005266487.1:p.Cys1189TrpfsTer?
XM_005266431.2:c.3531_3532del	XP_005266488.1:p.Cys1177TrpfsTer?
XM_005266432.2:c.3081_3082del	XP_005266489.1:p.Cys1027TrpfsTer?
XM_006719837.2:c.3471_3472del	XP_006719900.1:p.Cys1157TrpfsTer?
XM_006719838.1:c.1383_1384del	XP_006719901.1:p.Cys461TrpfsTer?
XM_006719839.1:c.1200_1201del	XP_006719902.1:p.Cys400TrpfsTer?
XM_011535117.1:c.3471_3472del	XP_011533419.1:p.Cys1157TrpfsTer?
XM_011535118.1:c.3432_3433del	XP_011533420.1:p.Cys1144TrpfsTer?
XM_011535119.1:c.3384_3385del	XP_011533421.1:p.Cys1128TrpfsTer?
XM_011535120.1:c.3153_3154del	XP_011533422.1:p.Cys1051TrpfsTer?
XM_011535121.1:c.3054_3055del	XP_011533423.1:p.Cys1018TrpfsTer?
XM_011535122.1:c.2235_2236del	XP_011533424.1:p.Cys745TrpfsTer?
XR_941601.1:n.3786_3787del
XR_941602.1:n.3786_3787del
XR_941603.1:n.3786_3787del
XR_941604.1:n.3786_3787del
NM_001330578.1:c.3333_3334del	NP_001317507.1:p.Cys1111TrpfsTer?
NM_001330579.1:c.3315_3316del	NP_001317508.1:p.Cys1105TrpfsTer?
XM_005266424.4:c.3471_3472del	XP_005266481.1:p.Cys1157TrpfsTer?
XM_005266430.4:c.3567_3568del	XP_005266487.1:p.Cys1189TrpfsTer?
XM_005266431.4:c.3531_3532del	XP_005266488.1:p.Cys1177TrpfsTer?
XM_006719837.3:c.3471_3472del	XP_006719900.1:p.Cys1157TrpfsTer?
XM_011535117.3:c.3471_3472del	XP_011533419.1:p.Cys1157TrpfsTer?
XM_017020627.1:c.3471_3472del	XP_016876116.1:p.Cys1157TrpfsTer?
NM_000053.4:c.3567_3568del MANE Select	NP_000044.2:p.Cys1189TrpfsTer?
NM_001005918.3:c.2946_2947del	NP_001005918.1:p.Cys982TrpfsTer?
NM_001330579.2:c.3315_3316del	NP_001317508.1:p.Cys1105TrpfsTer?
NM_001243182.2:c.3234_3235del	NP_001230111.1:p.Cys1078TrpfsTer?
NM_001330578.2:c.3333_3334del	NP_001317507.1:p.Cys1111TrpfsTer?