Canonical Allele Identifier: CA2695218763

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946336_51946351del , CM000675.2:g.51946336_51946351del	GRCh38
NC_000013.10:g.52520472_52520487del , CM000675.1:g.52520472_52520487del	GRCh37
NC_000013.9:g.51418473_51418488del	NCBI36
NG_008806.1:g.70147_70162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*829_*844del	ENSP00000489512.2:n.*829_*844del
ENST00000673864.2:c.*1740_*1755del	ENSP00000501045.2:n.*1740_*1755del
ENST00000674147.2:c.2375_2390del	ENSP00000500964.2:p.Thr792ArgfsTer18
ENST00000242839.10:c.2996_3011del MANE Select	ENSP00000242839.5:p.Thr999ArgfsTer18
ENST00000344297.9:c.2375_2390del	ENSP00000342559.5:p.Thr792ArgfsTer18
ENST00000400366.6:c.2663_2678del	ENSP00000383217.3:p.Thr888ArgfsTer18
ENST00000448424.7:c.2744_2759del	ENSP00000416738.3:p.Thr915ArgfsTer18
ENST00000673772.1:c.2762_2777del	ENSP00000501168.1:p.Thr921ArgfsTer18
ENST00000673867.1:n.1143_1158del
ENST00000674126.1:n.3359_3374del
ENST00000674147.1:c.1931_1946del	ENSP00000500964.1:p.Thr644ArgfsTer18
ENST00000242839.8:c.2996_3011del	ENSP00000242839.4:p.Thr999ArgfsTer18
ENST00000344297.8:c.2375_2390del	ENSP00000342559.5:p.Thr792ArgfsTer18
ENST00000400366.5:c.2663_2678del	ENSP00000383217.3:p.Thr888ArgfsTer18
ENST00000400370.8:c.1706_1721del	ENSP00000383221.3:p.Thr569ArgfsTer18
ENST00000418097.7:c.2866-2057_2866-2042del	ENSP00000393343.2:n.2866-2057_2866-2042de...
ENST00000448424.6:c.2762_2777del	ENSP00000416738.2:p.Thr921ArgfsTer18
ENST00000466629.1:n.216_231del
ENST00000634296.1:c.957_972del
ENST00000634308.1:c.*97_*112del	ENSP00000489234.1:n.*97_*112del
ENST00000634620.1:n.3740_3755del
ENST00000634810.1:n.2341_2356del
ENST00000634844.1:c.2852_2867del	ENSP00000489398.1:p.Thr951ArgfsTer18
ENST00000635406.1:n.342_357del
NM_000053.3:c.2996_3011del	NP_000044.2:p.Thr999ArgfsTer18
NM_001005918.2:c.2375_2390del	NP_001005918.1:p.Thr792ArgfsTer18
NM_001243182.1:c.2663_2678del	NP_001230111.1:p.Thr888ArgfsTer18
XM_005266423.2:c.2900_2915del	XP_005266480.1:p.Thr967ArgfsTer18
XM_005266424.3:c.2900_2915del	XP_005266481.1:p.Thr967ArgfsTer18
XM_005266427.2:c.2762_2777del	XP_005266484.1:p.Thr921ArgfsTer18
XM_005266428.1:c.2744_2759del	XP_005266485.1:p.Thr915ArgfsTer18
XM_005266430.3:c.2996_3011del	XP_005266487.1:p.Thr999ArgfsTer18
XM_005266431.2:c.2960_2975del	XP_005266488.1:p.Thr987ArgfsTer18
XM_005266432.2:c.2510_2525del	XP_005266489.1:p.Thr837ArgfsTer18
XM_006719837.2:c.2900_2915del	XP_006719900.1:p.Thr967ArgfsTer18
XM_006719838.1:c.812_827del	XP_006719901.1:p.Thr271ArgfsTer18
XM_006719839.1:c.812_827del	XP_006719902.1:p.Thr271ArgfsTer?
XM_011535117.1:c.2900_2915del	XP_011533419.1:p.Thr967ArgfsTer18
XM_011535118.1:c.2861_2876del	XP_011533420.1:p.Thr954ArgfsTer18
XM_011535119.1:c.2996_3011del	XP_011533421.1:p.Thr999ArgfsTer?
XM_011535120.1:c.2582_2597del	XP_011533422.1:p.Thr861ArgfsTer18
XM_011535121.1:c.2730+3659_2730+3674del	XP_011533423.1:n.2730+3659_2730+3674del
XM_011535122.1:c.1664_1679del	XP_011533424.1:p.Thr555ArgfsTer18
XR_941601.1:n.3215_3230del
XR_941602.1:n.3215_3230del
XR_941603.1:n.3215_3230del
XR_941604.1:n.3215_3230del
NM_001330578.1:c.2762_2777del	NP_001317507.1:p.Thr921ArgfsTer18
NM_001330579.1:c.2744_2759del	NP_001317508.1:p.Thr915ArgfsTer18
XM_005266424.4:c.2900_2915del	XP_005266481.1:p.Thr967ArgfsTer18
XM_005266430.4:c.2996_3011del	XP_005266487.1:p.Thr999ArgfsTer18
XM_005266431.4:c.2960_2975del	XP_005266488.1:p.Thr987ArgfsTer18
XM_006719837.3:c.2900_2915del	XP_006719900.1:p.Thr967ArgfsTer18
XM_011535117.3:c.2900_2915del	XP_011533419.1:p.Thr967ArgfsTer18
XM_017020627.1:c.2900_2915del	XP_016876116.1:p.Thr967ArgfsTer18
NM_000053.4:c.2996_3011del MANE Select	NP_000044.2:p.Thr999ArgfsTer18
NM_001005918.3:c.2375_2390del	NP_001005918.1:p.Thr792ArgfsTer18
NM_001330579.2:c.2744_2759del	NP_001317508.1:p.Thr915ArgfsTer18
NM_001243182.2:c.2663_2678del	NP_001230111.1:p.Thr888ArgfsTer18
NM_001330578.2:c.2762_2777del	NP_001317507.1:p.Thr921ArgfsTer18