Canonical Allele Identifier: CA2695218770

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946454_51946457del , CM000675.2:g.51946454_51946457del	GRCh38
NC_000013.10:g.52520590_52520593del , CM000675.1:g.52520590_52520593del	GRCh37
NC_000013.9:g.51418591_51418594del	NCBI36
NG_008806.1:g.70042_70045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*724_*727del	ENSP00000489512.2:n.*724_*727del
ENST00000673864.2:c.*1635_*1638del	ENSP00000501045.2:n.*1635_*1638del
ENST00000674147.2:c.2270_2273del	ENSP00000500964.2:p.Thr757ArgfsTer2
ENST00000242839.10:c.2891_2894del MANE Select	ENSP00000242839.5:p.Thr964ArgfsTer2
ENST00000344297.9:c.2270_2273del	ENSP00000342559.5:p.Thr757ArgfsTer2
ENST00000400366.6:c.2558_2561del	ENSP00000383217.3:p.Thr853ArgfsTer2
ENST00000448424.7:c.2639_2642del	ENSP00000416738.3:p.Thr880ArgfsTer2
ENST00000673772.1:c.2657_2660del	ENSP00000501168.1:p.Thr886ArgfsTer2
ENST00000673867.1:n.1038_1041del
ENST00000674126.1:n.3254_3257del
ENST00000674147.1:c.1826_1829del	ENSP00000500964.1:p.Thr609ArgfsTer2
ENST00000242839.8:c.2891_2894del	ENSP00000242839.4:p.Thr964ArgfsTer2
ENST00000344297.8:c.2270_2273del	ENSP00000342559.5:p.Thr757ArgfsTer2
ENST00000400366.5:c.2558_2561del	ENSP00000383217.3:p.Thr853ArgfsTer2
ENST00000400370.8:c.1601_1604del	ENSP00000383221.3:p.Thr534ArgfsTer2
ENST00000418097.7:c.2866-2162_2866-2159del	ENSP00000393343.2:n.2866-2162_2866-2159de...
ENST00000448424.6:c.2657_2660del	ENSP00000416738.2:p.Thr886ArgfsTer2
ENST00000466629.1:n.111_114del
ENST00000634296.1:c.852_855del
ENST00000634308.1:c.2677_2680del	ENSP00000489234.1:p.Gln893GlyfsTer?
ENST00000634620.1:n.3635_3638del
ENST00000634810.1:n.2236_2239del
ENST00000634844.1:c.2747_2750del	ENSP00000489398.1:p.Thr916ArgfsTer2
ENST00000635406.1:n.237_240del
NM_000053.3:c.2891_2894del	NP_000044.2:p.Thr964ArgfsTer2
NM_001005918.2:c.2270_2273del	NP_001005918.1:p.Thr757ArgfsTer2
NM_001243182.1:c.2558_2561del	NP_001230111.1:p.Thr853ArgfsTer2
XM_005266423.2:c.2795_2798del	XP_005266480.1:p.Thr932ArgfsTer2
XM_005266424.3:c.2795_2798del	XP_005266481.1:p.Thr932ArgfsTer2
XM_005266427.2:c.2657_2660del	XP_005266484.1:p.Thr886ArgfsTer2
XM_005266428.1:c.2639_2642del	XP_005266485.1:p.Thr880ArgfsTer2
XM_005266430.3:c.2891_2894del	XP_005266487.1:p.Thr964ArgfsTer2
XM_005266431.2:c.2855_2858del	XP_005266488.1:p.Thr952ArgfsTer2
XM_005266432.2:c.2405_2408del	XP_005266489.1:p.Thr802ArgfsTer2
XM_006719837.2:c.2795_2798del	XP_006719900.1:p.Thr932ArgfsTer2
XM_006719838.1:c.707_710del	XP_006719901.1:p.Thr236ArgfsTer2
XM_006719839.1:c.707_710del	XP_006719902.1:p.Thr236ArgfsTer2
XM_011535117.1:c.2795_2798del	XP_011533419.1:p.Thr932ArgfsTer2
XM_011535118.1:c.2756_2759del	XP_011533420.1:p.Thr919ArgfsTer2
XM_011535119.1:c.2891_2894del	XP_011533421.1:p.Thr964ArgfsTer2
XM_011535120.1:c.2477_2480del	XP_011533422.1:p.Thr826ArgfsTer2
XM_011535121.1:c.2730+3554_2730+3557del	XP_011533423.1:n.2730+3554_2730+3557del
XM_011535122.1:c.1559_1562del	XP_011533424.1:p.Thr520ArgfsTer2
XR_941601.1:n.3110_3113del
XR_941602.1:n.3110_3113del
XR_941603.1:n.3110_3113del
XR_941604.1:n.3110_3113del
NM_001330578.1:c.2657_2660del	NP_001317507.1:p.Thr886ArgfsTer2
NM_001330579.1:c.2639_2642del	NP_001317508.1:p.Thr880ArgfsTer2
XM_005266424.4:c.2795_2798del	XP_005266481.1:p.Thr932ArgfsTer2
XM_005266430.4:c.2891_2894del	XP_005266487.1:p.Thr964ArgfsTer2
XM_005266431.4:c.2855_2858del	XP_005266488.1:p.Thr952ArgfsTer2
XM_006719837.3:c.2795_2798del	XP_006719900.1:p.Thr932ArgfsTer2
XM_011535117.3:c.2795_2798del	XP_011533419.1:p.Thr932ArgfsTer2
XM_017020627.1:c.2795_2798del	XP_016876116.1:p.Thr932ArgfsTer2
NM_000053.4:c.2891_2894del MANE Select	NP_000044.2:p.Thr964ArgfsTer2
NM_001005918.3:c.2270_2273del	NP_001005918.1:p.Thr757ArgfsTer2
NM_001330579.2:c.2639_2642del	NP_001317508.1:p.Thr880ArgfsTer2
NM_001243182.2:c.2558_2561del	NP_001230111.1:p.Thr853ArgfsTer2
NM_001330578.2:c.2657_2660del	NP_001317507.1:p.Thr886ArgfsTer2