Canonical Allele Identifier: CA2575420443

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944237_51944253del , CM000675.2:g.51944237_51944253del	GRCh38
NC_000013.10:g.52518373_52518389del , CM000675.1:g.52518373_52518389del	GRCh37
NC_000013.9:g.51416374_51416390del	NCBI36
NG_008806.1:g.72242_72258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1699_*894-1683del	ENSP00000489512.2:n.*894-1699_*894-1683de...
ENST00000673864.2:c.*1843_*1859del	ENSP00000501045.2:n.*1843_*1859del
ENST00000674147.2:c.2478_2494del	ENSP00000500964.2:p.Gly828AlafsTer28
ENST00000242839.10:c.3099_3115del MANE Select	ENSP00000242839.5:p.Gly1035AlafsTer28
ENST00000344297.9:c.2478_2494del	ENSP00000342559.5:p.Gly828AlafsTer28
ENST00000400366.6:c.2766_2782del	ENSP00000383217.3:p.Gly924AlafsTer28
ENST00000448424.7:c.2847_2863del	ENSP00000416738.3:p.Gly951AlafsTer28
ENST00000673772.1:c.2865_2881del	ENSP00000501168.1:p.Gly957AlafsTer28
ENST00000673867.1:n.3238_3254del
ENST00000674126.1:n.3462_3478del
ENST00000674147.1:c.2034_2050del	ENSP00000500964.1:p.Gly680AlafsTer28
ENST00000242839.8:c.3099_3115del	ENSP00000242839.4:p.Gly1035AlafsTer28
ENST00000344297.8:c.2478_2494del	ENSP00000342559.5:p.Gly828AlafsTer28
ENST00000400366.5:c.2766_2782del	ENSP00000383217.3:p.Gly924AlafsTer28
ENST00000400370.8:c.1809_1825del	ENSP00000383221.3:p.Gly605AlafsTer28
ENST00000418097.7:c.2904_2920del	ENSP00000393343.2:p.Gly970AlafsTer28
ENST00000448424.6:c.2865_2881del	ENSP00000416738.2:p.Gly957AlafsTer28
ENST00000466629.1:n.319_335del
ENST00000634296.1:c.1022-1699_1022-1683del
ENST00000634308.1:c.*200_*216del	ENSP00000489234.1:n.*200_*216del
ENST00000634620.1:n.3843_3859del
ENST00000634810.1:n.2444_2460del
ENST00000634844.1:c.2955_2971del	ENSP00000489398.1:p.Gly987AlafsTer28
ENST00000635406.1:n.445_461del
NM_000053.3:c.3099_3115del	NP_000044.2:p.Gly1035AlafsTer28
NM_001005918.2:c.2478_2494del	NP_001005918.1:p.Gly828AlafsTer28
NM_001243182.1:c.2766_2782del	NP_001230111.1:p.Gly924AlafsTer28
XM_005266423.2:c.3003_3019del	XP_005266480.1:p.Gly1003AlafsTer28
XM_005266424.3:c.3003_3019del	XP_005266481.1:p.Gly1003AlafsTer28
XM_005266427.2:c.2865_2881del	XP_005266484.1:p.Gly957AlafsTer28
XM_005266428.1:c.2847_2863del	XP_005266485.1:p.Gly951AlafsTer28
XM_005266430.3:c.3099_3115del	XP_005266487.1:p.Gly1035AlafsTer28
XM_005266431.2:c.3063_3079del	XP_005266488.1:p.Gly1023AlafsTer28
XM_005266432.2:c.2613_2629del	XP_005266489.1:p.Gly873AlafsTer28
XM_006719837.2:c.3003_3019del	XP_006719900.1:p.Gly1003AlafsTer28
XM_006719838.1:c.915_931del	XP_006719901.1:p.Gly307AlafsTer28
XM_006719839.1:c.877-1699_877-1683del	XP_006719902.1:n.877-1699_877-1683del
XM_011535117.1:c.3003_3019del	XP_011533419.1:p.Gly1003AlafsTer28
XM_011535118.1:c.2964_2980del	XP_011533420.1:p.Gly990AlafsTer28
XM_011535119.1:c.3061-1699_3061-1683del	XP_011533421.1:n.3061-1699_3061-1683del
XM_011535120.1:c.2685_2701del	XP_011533422.1:p.Gly897AlafsTer28
XM_011535121.1:c.2731-1699_2731-1683del	XP_011533423.1:n.2731-1699_2731-1683del
XM_011535122.1:c.1767_1783del	XP_011533424.1:p.Gly591AlafsTer28
XR_941601.1:n.3318_3334del
XR_941602.1:n.3318_3334del
XR_941603.1:n.3318_3334del
XR_941604.1:n.3318_3334del
NM_001330578.1:c.2865_2881del	NP_001317507.1:p.Gly957AlafsTer28
NM_001330579.1:c.2847_2863del	NP_001317508.1:p.Gly951AlafsTer28
XM_005266424.4:c.3003_3019del	XP_005266481.1:p.Gly1003AlafsTer28
XM_005266430.4:c.3099_3115del	XP_005266487.1:p.Gly1035AlafsTer28
XM_005266431.4:c.3063_3079del	XP_005266488.1:p.Gly1023AlafsTer28
XM_006719837.3:c.3003_3019del	XP_006719900.1:p.Gly1003AlafsTer28
XM_011535117.3:c.3003_3019del	XP_011533419.1:p.Gly1003AlafsTer28
XM_017020627.1:c.3003_3019del	XP_016876116.1:p.Gly1003AlafsTer28
NM_000053.4:c.3099_3115del MANE Select	NP_000044.2:p.Gly1035AlafsTer28
NM_001005918.3:c.2478_2494del	NP_001005918.1:p.Gly828AlafsTer28
NM_001330579.2:c.2847_2863del	NP_001317508.1:p.Gly951AlafsTer28
NM_001243182.2:c.2766_2782del	NP_001230111.1:p.Gly924AlafsTer28
NM_001330578.2:c.2865_2881del	NP_001317507.1:p.Gly957AlafsTer28