Canonical Allele Identifier: CA2623116490

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944284-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944286_51944288del , CM000675.2:g.51944286_51944288del	GRCh38
NC_000013.10:g.52518422_52518424del , CM000675.1:g.52518422_52518424del	GRCh37
NC_000013.9:g.51416423_51416425del	NCBI36
NG_008806.1:g.72208_72210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1733_*894-1731del	ENSP00000489512.2:n.*894-1733_*894-1731del
ENST00000673864.2:c.*1809_*1811del	ENSP00000501045.2:n.*1809_*1811del
ENST00000674147.2:c.2444_2446del	ENSP00000500964.2:p.Lys815del
ENST00000242839.10:c.3065_3067del MANE Select	ENSP00000242839.5:p.Lys1022del
ENST00000344297.9:c.2444_2446del	ENSP00000342559.5:p.Lys815del
ENST00000400366.6:c.2732_2734del	ENSP00000383217.3:p.Lys911del
ENST00000448424.7:c.2813_2815del	ENSP00000416738.3:p.Lys938del
ENST00000673772.1:c.2831_2833del	ENSP00000501168.1:p.Lys944del
ENST00000673867.1:n.3204_3206del
ENST00000674126.1:n.3428_3430del
ENST00000674147.1:c.2000_2002del	ENSP00000500964.1:p.Lys667del
ENST00000242839.8:c.3065_3067del	ENSP00000242839.4:p.Lys1022del
ENST00000344297.8:c.2444_2446del	ENSP00000342559.5:p.Lys815del
ENST00000400366.5:c.2732_2734del	ENSP00000383217.3:p.Lys911del
ENST00000400370.8:c.1775_1777del	ENSP00000383221.3:p.Lys592del
ENST00000418097.7:c.2870_2872del	ENSP00000393343.2:p.Lys957del
ENST00000448424.6:c.2831_2833del	ENSP00000416738.2:p.Lys944del
ENST00000466629.1:n.285_287del
ENST00000634296.1:c.1022-1733_1022-1731del
ENST00000634308.1:c.*166_*168del	ENSP00000489234.1:n.*166_*168del
ENST00000634620.1:n.3809_3811del
ENST00000634810.1:n.2410_2412del
ENST00000634844.1:c.2921_2923del	ENSP00000489398.1:p.Lys974del
ENST00000635406.1:n.411_413del
NM_000053.3:c.3065_3067del	NP_000044.2:p.Lys1022del
NM_001005918.2:c.2444_2446del	NP_001005918.1:p.Lys815del
NM_001243182.1:c.2732_2734del	NP_001230111.1:p.Lys911del
XM_005266423.2:c.2969_2971del	XP_005266480.1:p.Lys990del
XM_005266424.3:c.2969_2971del	XP_005266481.1:p.Lys990del
XM_005266427.2:c.2831_2833del	XP_005266484.1:p.Lys944del
XM_005266428.1:c.2813_2815del	XP_005266485.1:p.Lys938del
XM_005266430.3:c.3065_3067del	XP_005266487.1:p.Lys1022del
XM_005266431.2:c.3029_3031del	XP_005266488.1:p.Lys1010del
XM_005266432.2:c.2579_2581del	XP_005266489.1:p.Lys860del
XM_006719837.2:c.2969_2971del	XP_006719900.1:p.Lys990del
XM_006719838.1:c.881_883del	XP_006719901.1:p.Lys294del
XM_006719839.1:c.877-1733_877-1731del	XP_006719902.1:n.877-1733_877-1731del
XM_011535117.1:c.2969_2971del	XP_011533419.1:p.Lys990del
XM_011535118.1:c.2930_2932del	XP_011533420.1:p.Lys977del
XM_011535119.1:c.3061-1733_3061-1731del	XP_011533421.1:n.3061-1733_3061-1731del
XM_011535120.1:c.2651_2653del	XP_011533422.1:p.Lys884del
XM_011535121.1:c.2731-1733_2731-1731del	XP_011533423.1:n.2731-1733_2731-1731del
XM_011535122.1:c.1733_1735del	XP_011533424.1:p.Lys578del
XR_941601.1:n.3284_3286del
XR_941602.1:n.3284_3286del
XR_941603.1:n.3284_3286del
XR_941604.1:n.3284_3286del
NM_001330578.1:c.2831_2833del	NP_001317507.1:p.Lys944del
NM_001330579.1:c.2813_2815del	NP_001317508.1:p.Lys938del
XM_005266424.4:c.2969_2971del	XP_005266481.1:p.Lys990del
XM_005266430.4:c.3065_3067del	XP_005266487.1:p.Lys1022del
XM_005266431.4:c.3029_3031del	XP_005266488.1:p.Lys1010del
XM_006719837.3:c.2969_2971del	XP_006719900.1:p.Lys990del
XM_011535117.3:c.2969_2971del	XP_011533419.1:p.Lys990del
XM_017020627.1:c.2969_2971del	XP_016876116.1:p.Lys990del
NM_000053.4:c.3065_3067del MANE Select	NP_000044.2:p.Lys1022del
NM_001005918.3:c.2444_2446del	NP_001005918.1:p.Lys815del
NM_001330579.2:c.2813_2815del	NP_001317508.1:p.Lys938del
NM_001243182.2:c.2732_2734del	NP_001230111.1:p.Lys911del
NM_001330578.2:c.2831_2833del	NP_001317507.1:p.Lys944del