Canonical Allele Identifier: CA2091566183

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946391_51946392delinsAG , CM000675.2:g.51946391_51946392delinsAG	GRCh38
NC_000013.10:g.52520527_52520528delinsAG , CM000675.1:g.52520527_52520528delinsAG	GRCh37
NC_000013.9:g.51418528_51418529delinsAG	NCBI36
NG_008806.1:g.70103_70104delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*785_*786delinsCT	ENSP00000489512.2:n.*785_*786delinsCT
ENST00000673864.2:c.*1696_*1697delinsCT	ENSP00000501045.2:n.*1696_*1697delinsCT
ENST00000674147.2:c.2331_2332delinsCT	ENSP00000500964.2:p.Pro777=
ENST00000242839.10:c.2952_2953delinsCT MANE Select	ENSP00000242839.5:p.Pro984=
ENST00000344297.9:c.2331_2332delinsCT	ENSP00000342559.5:p.Pro777=
ENST00000400366.6:c.2619_2620delinsCT	ENSP00000383217.3:p.Pro873=
ENST00000448424.7:c.2700_2701delinsCT	ENSP00000416738.3:p.Pro900=
ENST00000673772.1:c.2718_2719delinsCT	ENSP00000501168.1:p.Pro906=
ENST00000673867.1:n.1099_1100delinsCT
ENST00000674126.1:n.3315_3316delinsCT
ENST00000674147.1:c.1887_1888delinsCT	ENSP00000500964.1:p.Pro629=
ENST00000242839.8:c.2952_2953delinsCT	ENSP00000242839.4:p.Pro984=
ENST00000344297.8:c.2331_2332delinsCT	ENSP00000342559.5:p.Pro777=
ENST00000400366.5:c.2619_2620delinsCT	ENSP00000383217.3:p.Pro873=
ENST00000400370.8:c.1662_1663delinsCT	ENSP00000383221.3:p.Pro554=
ENST00000418097.7:c.2866-2101_2866-2100delinsCT	ENSP00000393343.2:n.2866-2101_2866-2100delinsCT
ENST00000448424.6:c.2718_2719delinsCT	ENSP00000416738.2:p.Pro906=
ENST00000466629.1:n.172_173delinsCT
ENST00000634296.1:c.913_914delinsCT
ENST00000634308.1:c.*53_*54delinsCT	ENSP00000489234.1:n.*53_*54delinsCT
ENST00000634620.1:n.3696_3697delinsCT
ENST00000634810.1:n.2297_2298delinsCT
ENST00000634844.1:c.2808_2809delinsCT	ENSP00000489398.1:p.Pro936=
ENST00000635406.1:n.298_299delinsCT
NM_000053.3:c.2952_2953delinsCT	NP_000044.2:p.Pro984=
NM_001005918.2:c.2331_2332delinsCT	NP_001005918.1:p.Pro777=
NM_001243182.1:c.2619_2620delinsCT	NP_001230111.1:p.Pro873=
XM_005266423.2:c.2856_2857delinsCT	XP_005266480.1:p.Pro952=
XM_005266424.3:c.2856_2857delinsCT	XP_005266481.1:p.Pro952=
XM_005266427.2:c.2718_2719delinsCT	XP_005266484.1:p.Pro906=
XM_005266428.1:c.2700_2701delinsCT	XP_005266485.1:p.Pro900=
XM_005266430.3:c.2952_2953delinsCT	XP_005266487.1:p.Pro984=
XM_005266431.2:c.2916_2917delinsCT	XP_005266488.1:p.Pro972=
XM_005266432.2:c.2466_2467delinsCT	XP_005266489.1:p.Pro822=
XM_006719837.2:c.2856_2857delinsCT	XP_006719900.1:p.Pro952=
XM_006719838.1:c.768_769delinsCT	XP_006719901.1:p.Pro256=
XM_006719839.1:c.768_769delinsCT	XP_006719902.1:p.Pro256=
XM_011535117.1:c.2856_2857delinsCT	XP_011533419.1:p.Pro952=
XM_011535118.1:c.2817_2818delinsCT	XP_011533420.1:p.Pro939=
XM_011535119.1:c.2952_2953delinsCT	XP_011533421.1:p.Pro984=
XM_011535120.1:c.2538_2539delinsCT	XP_011533422.1:p.Pro846=
XM_011535121.1:c.2730+3615_2730+3616delinsCT	XP_011533423.1:n.2730+3615_2730+3616delinsCT
XM_011535122.1:c.1620_1621delinsCT	XP_011533424.1:p.Pro540=
XR_941601.1:n.3171_3172delinsCT
XR_941602.1:n.3171_3172delinsCT
XR_941603.1:n.3171_3172delinsCT
XR_941604.1:n.3171_3172delinsCT
NM_001330578.1:c.2718_2719delinsCT	NP_001317507.1:p.Pro906=
NM_001330579.1:c.2700_2701delinsCT	NP_001317508.1:p.Pro900=
XM_005266424.4:c.2856_2857delinsCT	XP_005266481.1:p.Pro952=
XM_005266430.4:c.2952_2953delinsCT	XP_005266487.1:p.Pro984=
XM_005266431.4:c.2916_2917delinsCT	XP_005266488.1:p.Pro972=
XM_006719837.3:c.2856_2857delinsCT	XP_006719900.1:p.Pro952=
XM_011535117.3:c.2856_2857delinsCT	XP_011533419.1:p.Pro952=
XM_017020627.1:c.2856_2857delinsCT	XP_016876116.1:p.Pro952=
NM_000053.4:c.2952_2953delinsCT MANE Select	NP_000044.2:p.Pro984=
NM_001005918.3:c.2331_2332delinsCT	NP_001005918.1:p.Pro777=
NM_001330579.2:c.2700_2701delinsCT	NP_001317508.1:p.Pro900=
NM_001243182.2:c.2619_2620delinsCT	NP_001230111.1:p.Pro873=
NM_001330578.2:c.2718_2719delinsCT	NP_001317507.1:p.Pro906=