Canonical Allele Identifier: CA2580087657

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2137516
• ClinVar RCV Id: RCV003058421

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944244del , CM000675.2:g.51944244del	GRCh38
NC_000013.10:g.52518380del , CM000675.1:g.52518380del	GRCh37
NC_000013.9:g.51416381del	NCBI36
NG_008806.1:g.72254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1687del	ENSP00000489512.2:n.*894-1687del
ENST00000673864.2:c.*1855del	ENSP00000501045.2:n.*1855del
ENST00000674147.2:c.2490del	ENSP00000500964.2:p.Arg831GlyfsTer?
ENST00000242839.10:c.3111del MANE Select	ENSP00000242839.5:p.Arg1038GlyfsTer?
ENST00000344297.9:c.2490del	ENSP00000342559.5:p.Arg831GlyfsTer?
ENST00000400366.6:c.2778del	ENSP00000383217.3:p.Arg927GlyfsTer?
ENST00000448424.7:c.2859del	ENSP00000416738.3:p.Arg954GlyfsTer?
ENST00000673772.1:c.2877del	ENSP00000501168.1:p.Arg960GlyfsTer?
ENST00000673867.1:n.3250del
ENST00000674126.1:n.3474del
ENST00000674147.1:c.2046del	ENSP00000500964.1:p.Arg683GlyfsTer?
ENST00000242839.8:c.3111del	ENSP00000242839.4:p.Arg1038GlyfsTer?
ENST00000344297.8:c.2490del	ENSP00000342559.5:p.Arg831GlyfsTer?
ENST00000400366.5:c.2778del	ENSP00000383217.3:p.Arg927GlyfsTer?
ENST00000400370.8:c.1821del	ENSP00000383221.3:p.Arg608GlyfsTer?
ENST00000418097.7:c.2916del	ENSP00000393343.2:p.Arg973GlyfsTer?
ENST00000448424.6:c.2877del	ENSP00000416738.2:p.Arg960GlyfsTer?
ENST00000466629.1:n.331del
ENST00000634296.1:c.1022-1687del
ENST00000634308.1:c.*212del	ENSP00000489234.1:n.*212del
ENST00000634620.1:n.3855del
ENST00000634810.1:n.2456del
ENST00000634844.1:c.2967del	ENSP00000489398.1:p.Arg990GlyfsTer?
ENST00000635406.1:n.457del
NM_000053.3:c.3111del	NP_000044.2:p.Arg1038GlyfsTer?
NM_001005918.2:c.2490del	NP_001005918.1:p.Arg831GlyfsTer?
NM_001243182.1:c.2778del	NP_001230111.1:p.Arg927GlyfsTer?
XM_005266423.2:c.3015del	XP_005266480.1:p.Arg1006GlyfsTer?
XM_005266424.3:c.3015del	XP_005266481.1:p.Arg1006GlyfsTer?
XM_005266427.2:c.2877del	XP_005266484.1:p.Arg960GlyfsTer?
XM_005266428.1:c.2859del	XP_005266485.1:p.Arg954GlyfsTer?
XM_005266430.3:c.3111del	XP_005266487.1:p.Arg1038GlyfsTer?
XM_005266431.2:c.3075del	XP_005266488.1:p.Arg1026GlyfsTer?
XM_005266432.2:c.2625del	XP_005266489.1:p.Arg876GlyfsTer?
XM_006719837.2:c.3015del	XP_006719900.1:p.Arg1006GlyfsTer?
XM_006719838.1:c.927del	XP_006719901.1:p.Arg310GlyfsTer?
XM_006719839.1:c.877-1687del	XP_006719902.1:n.877-1687del
XM_011535117.1:c.3015del	XP_011533419.1:p.Arg1006GlyfsTer?
XM_011535118.1:c.2976del	XP_011533420.1:p.Arg993GlyfsTer?
XM_011535119.1:c.3061-1687del	XP_011533421.1:n.3061-1687del
XM_011535120.1:c.2697del	XP_011533422.1:p.Arg900GlyfsTer?
XM_011535121.1:c.2731-1687del	XP_011533423.1:n.2731-1687del
XM_011535122.1:c.1779del	XP_011533424.1:p.Arg594GlyfsTer?
XR_941601.1:n.3330del
XR_941602.1:n.3330del
XR_941603.1:n.3330del
XR_941604.1:n.3330del
NM_001330578.1:c.2877del	NP_001317507.1:p.Arg960GlyfsTer?
NM_001330579.1:c.2859del	NP_001317508.1:p.Arg954GlyfsTer?
XM_005266424.4:c.3015del	XP_005266481.1:p.Arg1006GlyfsTer?
XM_005266430.4:c.3111del	XP_005266487.1:p.Arg1038GlyfsTer?
XM_005266431.4:c.3075del	XP_005266488.1:p.Arg1026GlyfsTer?
XM_006719837.3:c.3015del	XP_006719900.1:p.Arg1006GlyfsTer?
XM_011535117.3:c.3015del	XP_011533419.1:p.Arg1006GlyfsTer?
XM_017020627.1:c.3015del	XP_016876116.1:p.Arg1006GlyfsTer?
NM_000053.4:c.3111del MANE Select	NP_000044.2:p.Arg1038GlyfsTer?
NM_001005918.3:c.2490del	NP_001005918.1:p.Arg831GlyfsTer?
NM_001330579.2:c.2859del	NP_001317508.1:p.Arg954GlyfsTer?
NM_001243182.2:c.2778del	NP_001230111.1:p.Arg927GlyfsTer?
NM_001330578.2:c.2877del	NP_001317507.1:p.Arg960GlyfsTer?