Canonical Allele Identifier: CA2499222490

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1175201
• ClinVar RCV Id: RCV001530204
• dbSNP Id: rs2138950870

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944185del , CM000675.2:g.51944185del	GRCh38
NC_000013.10:g.52518321del , CM000675.1:g.52518321del	GRCh37
NC_000013.9:g.51416322del	NCBI36
NG_008806.1:g.72311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1630del	ENSP00000489512.2:n.*894-1630del
ENST00000673864.2:c.*1912del	ENSP00000501045.2:n.*1912del
ENST00000674147.2:c.2547del	ENSP00000500964.2:p.Leu850TrpfsTer?
ENST00000242839.10:c.3168del MANE Select	ENSP00000242839.5:p.Leu1057TrpfsTer?
ENST00000344297.9:c.2547del	ENSP00000342559.5:p.Leu850TrpfsTer?
ENST00000400366.6:c.2835del	ENSP00000383217.3:p.Leu946TrpfsTer?
ENST00000448424.7:c.2916del	ENSP00000416738.3:p.Leu973TrpfsTer?
ENST00000673772.1:c.2934del	ENSP00000501168.1:p.Leu979TrpfsTer?
ENST00000673867.1:n.3307del
ENST00000674126.1:n.3531del
ENST00000674147.1:c.2103del	ENSP00000500964.1:p.Leu702TrpfsTer?
ENST00000242839.8:c.3168del	ENSP00000242839.4:p.Leu1057TrpfsTer?
ENST00000344297.8:c.2547del	ENSP00000342559.5:p.Leu850TrpfsTer?
ENST00000400366.5:c.2835del	ENSP00000383217.3:p.Leu946TrpfsTer?
ENST00000400370.8:c.1878del	ENSP00000383221.3:p.Leu627TrpfsTer?
ENST00000418097.7:c.2973del	ENSP00000393343.2:p.Leu992TrpfsTer?
ENST00000448424.6:c.2934del	ENSP00000416738.2:p.Leu979TrpfsTer?
ENST00000466629.1:n.388del
ENST00000634296.1:c.1022-1630del
ENST00000634308.1:c.*269del	ENSP00000489234.1:n.*269del
ENST00000634620.1:n.3912del
ENST00000634810.1:n.2513del
ENST00000634844.1:c.3024del	ENSP00000489398.1:p.Leu1009TrpfsTer?
NM_000053.3:c.3168del	NP_000044.2:p.Leu1057TrpfsTer?
NM_001005918.2:c.2547del	NP_001005918.1:p.Leu850TrpfsTer?
NM_001243182.1:c.2835del	NP_001230111.1:p.Leu946TrpfsTer?
XM_005266423.2:c.3072del	XP_005266480.1:p.Leu1025TrpfsTer?
XM_005266424.3:c.3072del	XP_005266481.1:p.Leu1025TrpfsTer?
XM_005266427.2:c.2934del	XP_005266484.1:p.Leu979TrpfsTer?
XM_005266428.1:c.2916del	XP_005266485.1:p.Leu973TrpfsTer?
XM_005266430.3:c.3168del	XP_005266487.1:p.Leu1057TrpfsTer?
XM_005266431.2:c.3132del	XP_005266488.1:p.Leu1045TrpfsTer?
XM_005266432.2:c.2682del	XP_005266489.1:p.Leu895TrpfsTer?
XM_006719837.2:c.3072del	XP_006719900.1:p.Leu1025TrpfsTer?
XM_006719838.1:c.984del	XP_006719901.1:p.Leu329TrpfsTer?
XM_006719839.1:c.877-1630del	XP_006719902.1:n.877-1630del
XM_011535117.1:c.3072del	XP_011533419.1:p.Leu1025TrpfsTer?
XM_011535118.1:c.3033del	XP_011533420.1:p.Leu1012TrpfsTer?
XM_011535119.1:c.3061-1630del	XP_011533421.1:n.3061-1630del
XM_011535120.1:c.2754del	XP_011533422.1:p.Leu919TrpfsTer?
XM_011535121.1:c.2731-1630del	XP_011533423.1:n.2731-1630del
XM_011535122.1:c.1836del	XP_011533424.1:p.Leu613TrpfsTer?
XR_941601.1:n.3387del
XR_941602.1:n.3387del
XR_941603.1:n.3387del
XR_941604.1:n.3387del
NM_001330578.1:c.2934del	NP_001317507.1:p.Leu979TrpfsTer?
NM_001330579.1:c.2916del	NP_001317508.1:p.Leu973TrpfsTer?
XM_005266424.4:c.3072del	XP_005266481.1:p.Leu1025TrpfsTer?
XM_005266430.4:c.3168del	XP_005266487.1:p.Leu1057TrpfsTer?
XM_005266431.4:c.3132del	XP_005266488.1:p.Leu1045TrpfsTer?
XM_006719837.3:c.3072del	XP_006719900.1:p.Leu1025TrpfsTer?
XM_011535117.3:c.3072del	XP_011533419.1:p.Leu1025TrpfsTer?
XM_017020627.1:c.3072del	XP_016876116.1:p.Leu1025TrpfsTer?
NM_000053.4:c.3168del MANE Select	NP_000044.2:p.Leu1057TrpfsTer?
NM_001005918.3:c.2547del	NP_001005918.1:p.Leu850TrpfsTer?
NM_001330579.2:c.2916del	NP_001317508.1:p.Leu973TrpfsTer?
NM_001243182.2:c.2835del	NP_001230111.1:p.Leu946TrpfsTer?
NM_001330578.2:c.2934del	NP_001317507.1:p.Leu979TrpfsTer?