Canonical Allele Identifier: CA2695218791

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950085_51950087del , CM000675.2:g.51950085_51950087del	GRCh38
NC_000013.10:g.52524221_52524223del , CM000675.1:g.52524221_52524223del	GRCh37
NC_000013.9:g.51422222_51422224del	NCBI36
NG_008806.1:g.66408_66410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*483_*485del	ENSP00000489512.2:n.*483_*485del
ENST00000673864.2:c.*1394_*1396del	ENSP00000501045.2:n.*1394_*1396del
ENST00000674147.2:c.2164_2166del	ENSP00000500964.2:p.Leu722del
ENST00000242839.10:c.2650_2652del MANE Select	ENSP00000242839.5:p.Leu884del
ENST00000344297.9:c.2164_2166del	ENSP00000342559.5:p.Leu722del
ENST00000400366.6:c.2317_2319del	ENSP00000383217.3:p.Leu773del
ENST00000448424.7:c.2398_2400del	ENSP00000416738.3:p.Leu800del
ENST00000673772.1:c.2416_2418del	ENSP00000501168.1:p.Leu806del
ENST00000674147.1:c.1720_1722del	ENSP00000500964.1:p.Leu574del
ENST00000242839.8:c.2650_2652del	ENSP00000242839.4:p.Leu884del
ENST00000344297.8:c.2164_2166del	ENSP00000342559.5:p.Leu722del
ENST00000400366.5:c.2317_2319del	ENSP00000383217.3:p.Leu773del
ENST00000400370.8:c.1360_1362del	ENSP00000383221.3:p.Leu454del
ENST00000418097.7:c.2650_2652del	ENSP00000393343.2:p.Leu884del
ENST00000448424.6:c.2416_2418del	ENSP00000416738.2:p.Leu806del
ENST00000634296.1:c.611_613del
ENST00000634308.1:c.2416_2418del	ENSP00000489234.1:p.Leu806del
ENST00000634620.1:n.3448_3450del
ENST00000634810.1:n.1995_1997del
ENST00000634844.1:c.2506_2508del	ENSP00000489398.1:p.Leu836del
ENST00000635406.1:n.212-3609_212-3607del
NM_000053.3:c.2650_2652del	NP_000044.2:p.Leu884del
NM_001005918.2:c.2164_2166del	NP_001005918.1:p.Leu722del
NM_001243182.1:c.2317_2319del	NP_001230111.1:p.Leu773del
XM_005266423.2:c.2554_2556del	XP_005266480.1:p.Leu852del
XM_005266424.3:c.2554_2556del	XP_005266481.1:p.Leu852del
XM_005266427.2:c.2416_2418del	XP_005266484.1:p.Leu806del
XM_005266428.1:c.2398_2400del	XP_005266485.1:p.Leu800del
XM_005266430.3:c.2650_2652del	XP_005266487.1:p.Leu884del
XM_005266431.2:c.2614_2616del	XP_005266488.1:p.Leu872del
XM_005266432.2:c.2164_2166del	XP_005266489.1:p.Leu722del
XM_006719837.2:c.2554_2556del	XP_006719900.1:p.Leu852del
XM_006719838.1:c.466_468del	XP_006719901.1:p.Leu156del
XM_006719839.1:c.466_468del	XP_006719902.1:p.Leu156del
XM_011535117.1:c.2554_2556del	XP_011533419.1:p.Leu852del
XM_011535118.1:c.2650_2652del	XP_011533420.1:p.Leu884del
XM_011535119.1:c.2650_2652del	XP_011533421.1:p.Leu884del
XM_011535120.1:c.2236_2238del	XP_011533422.1:p.Leu746del
XM_011535121.1:c.2650_2652del	XP_011533423.1:p.Leu884del
XM_011535122.1:c.1318_1320del	XP_011533424.1:p.Leu440del
XR_941601.1:n.2869_2871del
XR_941602.1:n.2869_2871del
XR_941603.1:n.2869_2871del
XR_941604.1:n.2869_2871del
NM_001330578.1:c.2416_2418del	NP_001317507.1:p.Leu806del
NM_001330579.1:c.2398_2400del	NP_001317508.1:p.Leu800del
XM_005266424.4:c.2554_2556del	XP_005266481.1:p.Leu852del
XM_005266430.4:c.2650_2652del	XP_005266487.1:p.Leu884del
XM_005266431.4:c.2614_2616del	XP_005266488.1:p.Leu872del
XM_006719837.3:c.2554_2556del	XP_006719900.1:p.Leu852del
XM_011535117.3:c.2554_2556del	XP_011533419.1:p.Leu852del
XM_017020627.1:c.2554_2556del	XP_016876116.1:p.Leu852del
NM_000053.4:c.2650_2652del MANE Select	NP_000044.2:p.Leu884del
NM_001005918.3:c.2164_2166del	NP_001005918.1:p.Leu722del
NM_001330579.2:c.2398_2400del	NP_001317508.1:p.Leu800del
NM_001243182.2:c.2317_2319del	NP_001230111.1:p.Leu773del
NM_001330578.2:c.2416_2418del	NP_001317507.1:p.Leu806del