Canonical Allele Identifier: CA2091541937

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950077_51950078delinsGC , CM000675.2:g.51950077_51950078delinsGC	GRCh38
NC_000013.10:g.52524213_52524214delinsGC , CM000675.1:g.52524213_52524214delinsGC	GRCh37
NC_000013.9:g.51422214_51422215delinsGC	NCBI36
NG_008806.1:g.66417_66418delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*492_*493delinsGC	ENSP00000489512.2:n.*492_*493delinsGC
ENST00000673864.2:c.*1403_*1404delinsGC	ENSP00000501045.2:n.*1403_*1404delinsGC
ENST00000674147.2:c.2173_2174delinsGC	ENSP00000500964.2:p.Ala725=
ENST00000242839.10:c.2659_2660delinsGC MANE Select	ENSP00000242839.5:p.Ala887=
ENST00000344297.9:c.2173_2174delinsGC	ENSP00000342559.5:p.Ala725=
ENST00000400366.6:c.2326_2327delinsGC	ENSP00000383217.3:p.Ala776=
ENST00000448424.7:c.2407_2408delinsGC	ENSP00000416738.3:p.Ala803=
ENST00000673772.1:c.2425_2426delinsGC	ENSP00000501168.1:p.Ala809=
ENST00000674147.1:c.1729_1730delinsGC	ENSP00000500964.1:p.Ala577=
ENST00000242839.8:c.2659_2660delinsGC	ENSP00000242839.4:p.Ala887=
ENST00000344297.8:c.2173_2174delinsGC	ENSP00000342559.5:p.Ala725=
ENST00000400366.5:c.2326_2327delinsGC	ENSP00000383217.3:p.Ala776=
ENST00000400370.8:c.1369_1370delinsGC	ENSP00000383221.3:p.Ala457=
ENST00000418097.7:c.2659_2660delinsGC	ENSP00000393343.2:p.Ala887=
ENST00000448424.6:c.2425_2426delinsGC	ENSP00000416738.2:p.Ala809=
ENST00000634296.1:c.620_621delinsGC
ENST00000634308.1:c.2425_2426delinsGC	ENSP00000489234.1:p.Ala809=
ENST00000634620.1:n.3457_3458delinsGC
ENST00000634810.1:n.2004_2005delinsGC
ENST00000634844.1:c.2515_2516delinsGC	ENSP00000489398.1:p.Ala839=
ENST00000635406.1:n.212-3600_212-3599delinsGC
NM_000053.3:c.2659_2660delinsGC	NP_000044.2:p.Ala887=
NM_001005918.2:c.2173_2174delinsGC	NP_001005918.1:p.Ala725=
NM_001243182.1:c.2326_2327delinsGC	NP_001230111.1:p.Ala776=
XM_005266423.2:c.2563_2564delinsGC	XP_005266480.1:p.Ala855=
XM_005266424.3:c.2563_2564delinsGC	XP_005266481.1:p.Ala855=
XM_005266427.2:c.2425_2426delinsGC	XP_005266484.1:p.Ala809=
XM_005266428.1:c.2407_2408delinsGC	XP_005266485.1:p.Ala803=
XM_005266430.3:c.2659_2660delinsGC	XP_005266487.1:p.Ala887=
XM_005266431.2:c.2623_2624delinsGC	XP_005266488.1:p.Ala875=
XM_005266432.2:c.2173_2174delinsGC	XP_005266489.1:p.Ala725=
XM_006719837.2:c.2563_2564delinsGC	XP_006719900.1:p.Ala855=
XM_006719838.1:c.475_476delinsGC	XP_006719901.1:p.Ala159=
XM_006719839.1:c.475_476delinsGC	XP_006719902.1:p.Ala159=
XM_011535117.1:c.2563_2564delinsGC	XP_011533419.1:p.Ala855=
XM_011535118.1:c.2659_2660delinsGC	XP_011533420.1:p.Ala887=
XM_011535119.1:c.2659_2660delinsGC	XP_011533421.1:p.Ala887=
XM_011535120.1:c.2245_2246delinsGC	XP_011533422.1:p.Ala749=
XM_011535121.1:c.2659_2660delinsGC	XP_011533423.1:p.Ala887=
XM_011535122.1:c.1327_1328delinsGC	XP_011533424.1:p.Ala443=
XR_941601.1:n.2878_2879delinsGC
XR_941602.1:n.2878_2879delinsGC
XR_941603.1:n.2878_2879delinsGC
XR_941604.1:n.2878_2879delinsGC
NM_001330578.1:c.2425_2426delinsGC	NP_001317507.1:p.Ala809=
NM_001330579.1:c.2407_2408delinsGC	NP_001317508.1:p.Ala803=
XM_005266424.4:c.2563_2564delinsGC	XP_005266481.1:p.Ala855=
XM_005266430.4:c.2659_2660delinsGC	XP_005266487.1:p.Ala887=
XM_005266431.4:c.2623_2624delinsGC	XP_005266488.1:p.Ala875=
XM_006719837.3:c.2563_2564delinsGC	XP_006719900.1:p.Ala855=
XM_011535117.3:c.2563_2564delinsGC	XP_011533419.1:p.Ala855=
XM_017020627.1:c.2563_2564delinsGC	XP_016876116.1:p.Ala855=
NM_000053.4:c.2659_2660delinsGC MANE Select	NP_000044.2:p.Ala887=
NM_001005918.3:c.2173_2174delinsGC	NP_001005918.1:p.Ala725=
NM_001330579.2:c.2407_2408delinsGC	NP_001317508.1:p.Ala803=
NM_001243182.2:c.2326_2327delinsGC	NP_001230111.1:p.Ala776=
NM_001330578.2:c.2425_2426delinsGC	NP_001317507.1:p.Ala809=