Canonical Allele Identifier: CA2623116209

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944141-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944145del , CM000675.2:g.51944145del	GRCh38
NC_000013.10:g.52518281del , CM000675.1:g.52518281del	GRCh37
NC_000013.9:g.51416282del	NCBI36
NG_008806.1:g.72353del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1588del	ENSP00000489512.2:n.*894-1588del
ENST00000673864.2:c.*1954del	ENSP00000501045.2:n.*1954del
ENST00000674147.2:c.2589del	ENSP00000500964.2:p.Leu864TrpfsTer?
ENST00000242839.10:c.3210del MANE Select	ENSP00000242839.5:p.Leu1071TrpfsTer?
ENST00000344297.9:c.2589del	ENSP00000342559.5:p.Leu864TrpfsTer?
ENST00000400366.6:c.2877del	ENSP00000383217.3:p.Leu960TrpfsTer?
ENST00000448424.7:c.2958del	ENSP00000416738.3:p.Leu987TrpfsTer?
ENST00000673772.1:c.2976del	ENSP00000501168.1:p.Leu993TrpfsTer?
ENST00000673867.1:n.3349del
ENST00000674126.1:n.3573del
ENST00000674147.1:c.2145del	ENSP00000500964.1:p.Leu716TrpfsTer?
ENST00000242839.8:c.3210del	ENSP00000242839.4:p.Leu1071TrpfsTer?
ENST00000344297.8:c.2589del	ENSP00000342559.5:p.Leu864TrpfsTer?
ENST00000400366.5:c.2877del	ENSP00000383217.3:p.Leu960TrpfsTer?
ENST00000400370.8:c.1920del	ENSP00000383221.3:p.Leu641TrpfsTer?
ENST00000418097.7:c.3015del	ENSP00000393343.2:p.Leu1006TrpfsTer?
ENST00000448424.6:c.2976del	ENSP00000416738.2:p.Leu993TrpfsTer?
ENST00000466629.1:n.430del
ENST00000634296.1:c.1022-1588del
ENST00000634308.1:c.*311del	ENSP00000489234.1:n.*311del
ENST00000634620.1:n.3954del
ENST00000634810.1:n.2555del
ENST00000634844.1:c.3066del	ENSP00000489398.1:p.Leu1023TrpfsTer?
NM_000053.3:c.3210del	NP_000044.2:p.Leu1071TrpfsTer?
NM_001005918.2:c.2589del	NP_001005918.1:p.Leu864TrpfsTer?
NM_001243182.1:c.2877del	NP_001230111.1:p.Leu960TrpfsTer?
XM_005266423.2:c.3114del	XP_005266480.1:p.Leu1039TrpfsTer?
XM_005266424.3:c.3114del	XP_005266481.1:p.Leu1039TrpfsTer?
XM_005266427.2:c.2976del	XP_005266484.1:p.Leu993TrpfsTer?
XM_005266428.1:c.2958del	XP_005266485.1:p.Leu987TrpfsTer?
XM_005266430.3:c.3210del	XP_005266487.1:p.Leu1071TrpfsTer?
XM_005266431.2:c.3174del	XP_005266488.1:p.Leu1059TrpfsTer?
XM_005266432.2:c.2724del	XP_005266489.1:p.Leu909TrpfsTer?
XM_006719837.2:c.3114del	XP_006719900.1:p.Leu1039TrpfsTer?
XM_006719838.1:c.1026del	XP_006719901.1:p.Leu343TrpfsTer?
XM_006719839.1:c.877-1588del	XP_006719902.1:n.877-1588del
XM_011535117.1:c.3114del	XP_011533419.1:p.Leu1039TrpfsTer?
XM_011535118.1:c.3075del	XP_011533420.1:p.Leu1026TrpfsTer?
XM_011535119.1:c.3061-1588del	XP_011533421.1:n.3061-1588del
XM_011535120.1:c.2796del	XP_011533422.1:p.Leu933TrpfsTer?
XM_011535121.1:c.2731-1588del	XP_011533423.1:n.2731-1588del
XM_011535122.1:c.1878del	XP_011533424.1:p.Leu627TrpfsTer?
XR_941601.1:n.3429del
XR_941602.1:n.3429del
XR_941603.1:n.3429del
XR_941604.1:n.3429del
NM_001330578.1:c.2976del	NP_001317507.1:p.Leu993TrpfsTer?
NM_001330579.1:c.2958del	NP_001317508.1:p.Leu987TrpfsTer?
XM_005266424.4:c.3114del	XP_005266481.1:p.Leu1039TrpfsTer?
XM_005266430.4:c.3210del	XP_005266487.1:p.Leu1071TrpfsTer?
XM_005266431.4:c.3174del	XP_005266488.1:p.Leu1059TrpfsTer?
XM_006719837.3:c.3114del	XP_006719900.1:p.Leu1039TrpfsTer?
XM_011535117.3:c.3114del	XP_011533419.1:p.Leu1039TrpfsTer?
XM_017020627.1:c.3114del	XP_016876116.1:p.Leu1039TrpfsTer?
NM_000053.4:c.3210del MANE Select	NP_000044.2:p.Leu1071TrpfsTer?
NM_001005918.3:c.2589del	NP_001005918.1:p.Leu864TrpfsTer?
NM_001330579.2:c.2958del	NP_001317508.1:p.Leu987TrpfsTer?
NM_001243182.2:c.2877del	NP_001230111.1:p.Leu960TrpfsTer?
NM_001330578.2:c.2976del	NP_001317507.1:p.Leu993TrpfsTer?