Canonical Allele Identifier: CA2573149708

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1383072
• ClinVar RCV Id: RCV001890744
• dbSNP Id: rs2138948876

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944172del , CM000675.2:g.51944172del	GRCh38
NC_000013.10:g.52518308del , CM000675.1:g.52518308del	GRCh37
NC_000013.9:g.51416309del	NCBI36
NG_008806.1:g.72326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1615del	ENSP00000489512.2:n.*894-1615del
ENST00000673864.2:c.*1927del	ENSP00000501045.2:n.*1927del
ENST00000674147.2:c.2562del	ENSP00000500964.2:p.Thr855LeufsTer?
ENST00000242839.10:c.3183del MANE Select	ENSP00000242839.5:p.Thr1062LeufsTer?
ENST00000344297.9:c.2562del	ENSP00000342559.5:p.Thr855LeufsTer?
ENST00000400366.6:c.2850del	ENSP00000383217.3:p.Thr951LeufsTer?
ENST00000448424.7:c.2931del	ENSP00000416738.3:p.Thr978LeufsTer?
ENST00000673772.1:c.2949del	ENSP00000501168.1:p.Thr984LeufsTer?
ENST00000673867.1:n.3322del
ENST00000674126.1:n.3546del
ENST00000674147.1:c.2118del	ENSP00000500964.1:p.Thr707LeufsTer?
ENST00000242839.8:c.3183del	ENSP00000242839.4:p.Thr1062LeufsTer?
ENST00000344297.8:c.2562del	ENSP00000342559.5:p.Thr855LeufsTer?
ENST00000400366.5:c.2850del	ENSP00000383217.3:p.Thr951LeufsTer?
ENST00000400370.8:c.1893del	ENSP00000383221.3:p.Thr632LeufsTer?
ENST00000418097.7:c.2988del	ENSP00000393343.2:p.Thr997LeufsTer?
ENST00000448424.6:c.2949del	ENSP00000416738.2:p.Thr984LeufsTer?
ENST00000466629.1:n.403del
ENST00000634296.1:c.1022-1615del
ENST00000634308.1:c.*284del	ENSP00000489234.1:n.*284del
ENST00000634620.1:n.3927del
ENST00000634810.1:n.2528del
ENST00000634844.1:c.3039del	ENSP00000489398.1:p.Thr1014LeufsTer?
NM_000053.3:c.3183del	NP_000044.2:p.Thr1062LeufsTer?
NM_001005918.2:c.2562del	NP_001005918.1:p.Thr855LeufsTer?
NM_001243182.1:c.2850del	NP_001230111.1:p.Thr951LeufsTer?
XM_005266423.2:c.3087del	XP_005266480.1:p.Thr1030LeufsTer?
XM_005266424.3:c.3087del	XP_005266481.1:p.Thr1030LeufsTer?
XM_005266427.2:c.2949del	XP_005266484.1:p.Thr984LeufsTer?
XM_005266428.1:c.2931del	XP_005266485.1:p.Thr978LeufsTer?
XM_005266430.3:c.3183del	XP_005266487.1:p.Thr1062LeufsTer?
XM_005266431.2:c.3147del	XP_005266488.1:p.Thr1050LeufsTer?
XM_005266432.2:c.2697del	XP_005266489.1:p.Thr900LeufsTer?
XM_006719837.2:c.3087del	XP_006719900.1:p.Thr1030LeufsTer?
XM_006719838.1:c.999del	XP_006719901.1:p.Thr334LeufsTer?
XM_006719839.1:c.877-1615del	XP_006719902.1:n.877-1615del
XM_011535117.1:c.3087del	XP_011533419.1:p.Thr1030LeufsTer?
XM_011535118.1:c.3048del	XP_011533420.1:p.Thr1017LeufsTer?
XM_011535119.1:c.3061-1615del	XP_011533421.1:n.3061-1615del
XM_011535120.1:c.2769del	XP_011533422.1:p.Thr924LeufsTer?
XM_011535121.1:c.2731-1615del	XP_011533423.1:n.2731-1615del
XM_011535122.1:c.1851del	XP_011533424.1:p.Thr618LeufsTer?
XR_941601.1:n.3402del
XR_941602.1:n.3402del
XR_941603.1:n.3402del
XR_941604.1:n.3402del
NM_001330578.1:c.2949del	NP_001317507.1:p.Thr984LeufsTer?
NM_001330579.1:c.2931del	NP_001317508.1:p.Thr978LeufsTer?
XM_005266424.4:c.3087del	XP_005266481.1:p.Thr1030LeufsTer?
XM_005266430.4:c.3183del	XP_005266487.1:p.Thr1062LeufsTer?
XM_005266431.4:c.3147del	XP_005266488.1:p.Thr1050LeufsTer?
XM_006719837.3:c.3087del	XP_006719900.1:p.Thr1030LeufsTer?
XM_011535117.3:c.3087del	XP_011533419.1:p.Thr1030LeufsTer?
XM_017020627.1:c.3087del	XP_016876116.1:p.Thr1030LeufsTer?
NM_000053.4:c.3183del MANE Select	NP_000044.2:p.Thr1062LeufsTer?
NM_001005918.3:c.2562del	NP_001005918.1:p.Thr855LeufsTer?
NM_001330579.2:c.2931del	NP_001317508.1:p.Thr978LeufsTer?
NM_001243182.2:c.2850del	NP_001230111.1:p.Thr951LeufsTer?
NM_001330578.2:c.2949del	NP_001317507.1:p.Thr984LeufsTer?