Canonical Allele Identifier: CA10605504

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 286564
• ClinVar RCV Id: RCV000329325 ; RCV001729508
• dbSNP Id: rs886043423
• gnomAD v2: 13-52518380-G-GA
• gnomAD v3: 13-51944244-G-GA
• gnomAD v4: 13-51944244-G-GA
• MyVariant Identifiers: chr13:g.52518381dupA (hg19) ; chr13:g.52518380_52518381insA (hg19) ; chr13:g.51944245dupA (hg38) ; chr13:g.51944244_51944245insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944245dup , CM000675.2:g.51944245dup	GRCh38
NC_000013.10:g.52518381dup , CM000675.1:g.52518381dup	GRCh37
NC_000013.9:g.51416382dup	NCBI36
NG_008806.1:g.72250dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1691dup	ENSP00000489512.2:n.*894-1691dup
ENST00000673864.2:c.*1851dup	ENSP00000501045.2:n.*1851dup
ENST00000674147.2:c.2486dup	ENSP00000500964.2:p.Arg831GlnfsTer?
ENST00000242839.10:c.3107dup MANE Select	ENSP00000242839.5:p.Arg1038GlnfsTer?
ENST00000344297.9:c.2486dup	ENSP00000342559.5:p.Arg831GlnfsTer?
ENST00000400366.6:c.2774dup	ENSP00000383217.3:p.Arg927GlnfsTer?
ENST00000448424.7:c.2855dup	ENSP00000416738.3:p.Arg954GlnfsTer?
ENST00000673772.1:c.2873dup	ENSP00000501168.1:p.Arg960GlnfsTer?
ENST00000673867.1:n.3246dup
ENST00000674126.1:n.3470dup
ENST00000674147.1:c.2042dup	ENSP00000500964.1:p.Arg683GlnfsTer?
ENST00000242839.8:c.3107dup	ENSP00000242839.4:p.Arg1038GlnfsTer?
ENST00000344297.8:c.2486dup	ENSP00000342559.5:p.Arg831GlnfsTer?
ENST00000400366.5:c.2774dup	ENSP00000383217.3:p.Arg927GlnfsTer?
ENST00000400370.8:c.1817dup	ENSP00000383221.3:p.Arg608GlnfsTer?
ENST00000418097.7:c.2912dup	ENSP00000393343.2:p.Arg973GlnfsTer?
ENST00000448424.6:c.2873dup	ENSP00000416738.2:p.Arg960GlnfsTer?
ENST00000466629.1:n.327dup
ENST00000634296.1:c.1022-1691dup
ENST00000634308.1:c.*208dup	ENSP00000489234.1:n.*208dup
ENST00000634620.1:n.3851dup
ENST00000634810.1:n.2452dup
ENST00000634844.1:c.2963dup	ENSP00000489398.1:p.Arg990GlnfsTer?
ENST00000635406.1:n.453dup
NM_000053.3:c.3107dup	NP_000044.2:p.Arg1038GlnfsTer?
NM_001005918.2:c.2486dup	NP_001005918.1:p.Arg831GlnfsTer?
NM_001243182.1:c.2774dup	NP_001230111.1:p.Arg927GlnfsTer?
XM_005266423.2:c.3011dup	XP_005266480.1:p.Arg1006GlnfsTer?
XM_005266424.3:c.3011dup	XP_005266481.1:p.Arg1006GlnfsTer?
XM_005266427.2:c.2873dup	XP_005266484.1:p.Arg960GlnfsTer?
XM_005266428.1:c.2855dup	XP_005266485.1:p.Arg954GlnfsTer?
XM_005266430.3:c.3107dup	XP_005266487.1:p.Arg1038GlnfsTer?
XM_005266431.2:c.3071dup	XP_005266488.1:p.Arg1026GlnfsTer?
XM_005266432.2:c.2621dup	XP_005266489.1:p.Arg876GlnfsTer?
XM_006719837.2:c.3011dup	XP_006719900.1:p.Arg1006GlnfsTer?
XM_006719838.1:c.923dup	XP_006719901.1:p.Arg310GlnfsTer?
XM_006719839.1:c.877-1691dup	XP_006719902.1:n.877-1691dup
XM_011535117.1:c.3011dup	XP_011533419.1:p.Arg1006GlnfsTer?
XM_011535118.1:c.2972dup	XP_011533420.1:p.Arg993GlnfsTer?
XM_011535119.1:c.3061-1691dup	XP_011533421.1:n.3061-1691dup
XM_011535120.1:c.2693dup	XP_011533422.1:p.Arg900GlnfsTer?
XM_011535121.1:c.2731-1691dup	XP_011533423.1:n.2731-1691dup
XM_011535122.1:c.1775dup	XP_011533424.1:p.Arg594GlnfsTer?
XR_941601.1:n.3326dup
XR_941602.1:n.3326dup
XR_941603.1:n.3326dup
XR_941604.1:n.3326dup
NM_001330578.1:c.2873dup	NP_001317507.1:p.Arg960GlnfsTer?
NM_001330579.1:c.2855dup	NP_001317508.1:p.Arg954GlnfsTer?
XM_005266424.4:c.3011dup	XP_005266481.1:p.Arg1006GlnfsTer?
XM_005266430.4:c.3107dup	XP_005266487.1:p.Arg1038GlnfsTer?
XM_005266431.4:c.3071dup	XP_005266488.1:p.Arg1026GlnfsTer?
XM_006719837.3:c.3011dup	XP_006719900.1:p.Arg1006GlnfsTer?
XM_011535117.3:c.3011dup	XP_011533419.1:p.Arg1006GlnfsTer?
XM_017020627.1:c.3011dup	XP_016876116.1:p.Arg1006GlnfsTer?
NM_000053.4:c.3107dup MANE Select	NP_000044.2:p.Arg1038GlnfsTer?
NM_001005918.3:c.2486dup	NP_001005918.1:p.Arg831GlnfsTer?
NM_001330579.2:c.2855dup	NP_001317508.1:p.Arg954GlnfsTer?
NM_001243182.2:c.2774dup	NP_001230111.1:p.Arg927GlnfsTer?
NM_001330578.2:c.2873dup	NP_001317507.1:p.Arg960GlnfsTer?