Canonical Allele Identifier: CA2580087670

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1724700
• ClinVar RCV Id: RCV002309968

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946449_51946459del , CM000675.2:g.51946449_51946459del	GRCh38
NC_000013.10:g.52520585_52520595del , CM000675.1:g.52520585_52520595del	GRCh37
NC_000013.9:g.51418586_51418596del	NCBI36
NG_008806.1:g.70036_70046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*718_*728del	ENSP00000489512.2:n.*718_*728del
ENST00000673864.2:c.*1629_*1639del	ENSP00000501045.2:n.*1629_*1639del
ENST00000674147.2:c.2264_2274del	ENSP00000500964.2:p.Ser755CysfsTer?
ENST00000242839.10:c.2885_2895del MANE Select	ENSP00000242839.5:p.Ser962CysfsTer?
ENST00000344297.9:c.2264_2274del	ENSP00000342559.5:p.Ser755CysfsTer?
ENST00000400366.6:c.2552_2562del	ENSP00000383217.3:p.Ser851CysfsTer?
ENST00000448424.7:c.2633_2643del	ENSP00000416738.3:p.Ser878CysfsTer?
ENST00000673772.1:c.2651_2661del	ENSP00000501168.1:p.Ser884CysfsTer?
ENST00000673867.1:n.1032_1042del
ENST00000674126.1:n.3248_3258del
ENST00000674147.1:c.1820_1830del	ENSP00000500964.1:p.Ser607CysfsTer?
ENST00000242839.8:c.2885_2895del	ENSP00000242839.4:p.Ser962CysfsTer?
ENST00000344297.8:c.2264_2274del	ENSP00000342559.5:p.Ser755CysfsTer?
ENST00000400366.5:c.2552_2562del	ENSP00000383217.3:p.Ser851CysfsTer?
ENST00000400370.8:c.1595_1605del	ENSP00000383221.3:p.Ser532CysfsTer?
ENST00000418097.7:c.2866-2168_2866-2158del	ENSP00000393343.2:n.2866-2168_2866-2158de...
ENST00000448424.6:c.2651_2661del	ENSP00000416738.2:p.Ser884CysfsTer?
ENST00000466629.1:n.105_115del
ENST00000634296.1:c.846_856del
ENST00000634308.1:c.2671_2681del	ENSP00000489234.1:p.Pro891ValfsTer?
ENST00000634620.1:n.3629_3639del
ENST00000634810.1:n.2230_2240del
ENST00000634844.1:c.2741_2751del	ENSP00000489398.1:p.Ser914CysfsTer?
ENST00000635406.1:n.231_241del
NM_000053.3:c.2885_2895del	NP_000044.2:p.Ser962CysfsTer?
NM_001005918.2:c.2264_2274del	NP_001005918.1:p.Ser755CysfsTer?
NM_001243182.1:c.2552_2562del	NP_001230111.1:p.Ser851CysfsTer?
XM_005266423.2:c.2789_2799del	XP_005266480.1:p.Ser930CysfsTer?
XM_005266424.3:c.2789_2799del	XP_005266481.1:p.Ser930CysfsTer?
XM_005266427.2:c.2651_2661del	XP_005266484.1:p.Ser884CysfsTer?
XM_005266428.1:c.2633_2643del	XP_005266485.1:p.Ser878CysfsTer?
XM_005266430.3:c.2885_2895del	XP_005266487.1:p.Ser962CysfsTer?
XM_005266431.2:c.2849_2859del	XP_005266488.1:p.Ser950CysfsTer?
XM_005266432.2:c.2399_2409del	XP_005266489.1:p.Ser800CysfsTer?
XM_006719837.2:c.2789_2799del	XP_006719900.1:p.Ser930CysfsTer?
XM_006719838.1:c.701_711del	XP_006719901.1:p.Ser234CysfsTer?
XM_006719839.1:c.701_711del	XP_006719902.1:p.Ser234CysfsTer?
XM_011535117.1:c.2789_2799del	XP_011533419.1:p.Ser930CysfsTer?
XM_011535118.1:c.2750_2760del	XP_011533420.1:p.Ser917CysfsTer?
XM_011535119.1:c.2885_2895del	XP_011533421.1:p.Ser962CysfsTer?
XM_011535120.1:c.2471_2481del	XP_011533422.1:p.Ser824CysfsTer?
XM_011535121.1:c.2730+3548_2730+3558del	XP_011533423.1:n.2730+3548_2730+3558del
XM_011535122.1:c.1553_1563del	XP_011533424.1:p.Ser518CysfsTer?
XR_941601.1:n.3104_3114del
XR_941602.1:n.3104_3114del
XR_941603.1:n.3104_3114del
XR_941604.1:n.3104_3114del
NM_001330578.1:c.2651_2661del	NP_001317507.1:p.Ser884CysfsTer?
NM_001330579.1:c.2633_2643del	NP_001317508.1:p.Ser878CysfsTer?
XM_005266424.4:c.2789_2799del	XP_005266481.1:p.Ser930CysfsTer?
XM_005266430.4:c.2885_2895del	XP_005266487.1:p.Ser962CysfsTer?
XM_005266431.4:c.2849_2859del	XP_005266488.1:p.Ser950CysfsTer?
XM_006719837.3:c.2789_2799del	XP_006719900.1:p.Ser930CysfsTer?
XM_011535117.3:c.2789_2799del	XP_011533419.1:p.Ser930CysfsTer?
XM_017020627.1:c.2789_2799del	XP_016876116.1:p.Ser930CysfsTer?
NM_000053.4:c.2885_2895del MANE Select	NP_000044.2:p.Ser962CysfsTer?
NM_001005918.3:c.2264_2274del	NP_001005918.1:p.Ser755CysfsTer?
NM_001330579.2:c.2633_2643del	NP_001317508.1:p.Ser878CysfsTer?
NM_001243182.2:c.2552_2562del	NP_001230111.1:p.Ser851CysfsTer?
NM_001330578.2:c.2651_2661del	NP_001317507.1:p.Ser884CysfsTer?