Canonical Allele Identifier: CA2091542115

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950165_51950166delinsGA , CM000675.2:g.51950165_51950166delinsGA	GRCh38
NC_000013.10:g.52524301_52524302delinsGA , CM000675.1:g.52524301_52524302delinsGA	GRCh37
NC_000013.9:g.51422302_51422303delinsGA	NCBI36
NG_008806.1:g.66329_66330delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*409-5_*409-4delinsTC	ENSP00000489512.2:n.*409-5_*409-4delinsTC
ENST00000673864.2:c.*1320-5_*1320-4delinsTC	ENSP00000501045.2:n.*1320-5_*1320-4delinsTC
ENST00000674147.2:c.2090-5_2090-4delinsTC	ENSP00000500964.2:n.2090-5_2090-4delinsTC
ENST00000242839.10:c.2576-5_2576-4delinsTC MANE Select	ENSP00000242839.5:n.2576-5_2576-4delinsTC
ENST00000344297.9:c.2090-5_2090-4delinsTC	ENSP00000342559.5:n.2090-5_2090-4delinsTC
ENST00000400366.6:c.2243-5_2243-4delinsTC	ENSP00000383217.3:n.2243-5_2243-4delinsTC
ENST00000448424.7:c.2324-5_2324-4delinsTC	ENSP00000416738.3:n.2324-5_2324-4delinsTC
ENST00000673772.1:c.2342-5_2342-4delinsTC	ENSP00000501168.1:n.2342-5_2342-4delinsTC
ENST00000674147.1:c.1646-5_1646-4delinsTC	ENSP00000500964.1:n.1646-5_1646-4delinsTC
ENST00000242839.8:c.2576-5_2576-4delinsTC	ENSP00000242839.4:n.2576-5_2576-4delinsTC
ENST00000344297.8:c.2090-5_2090-4delinsTC	ENSP00000342559.5:n.2090-5_2090-4delinsTC
ENST00000400366.5:c.2243-5_2243-4delinsTC	ENSP00000383217.3:n.2243-5_2243-4delinsTC
ENST00000400370.8:c.1286-5_1286-4delinsTC	ENSP00000383221.3:n.1286-5_1286-4delinsTC
ENST00000418097.7:c.2576-5_2576-4delinsTC	ENSP00000393343.2:n.2576-5_2576-4delinsTC
ENST00000448424.6:c.2342-5_2342-4delinsTC	ENSP00000416738.2:n.2342-5_2342-4delinsTC
ENST00000634296.1:c.537-5_537-4delinsTC
ENST00000634308.1:c.2342-5_2342-4delinsTC	ENSP00000489234.1:n.2342-5_2342-4delinsTC
ENST00000634620.1:n.3374-5_3374-4delinsTC
ENST00000634810.1:n.1921-5_1921-4delinsTC
ENST00000634844.1:c.2432-5_2432-4delinsTC	ENSP00000489398.1:n.2432-5_2432-4delinsTC
ENST00000635406.1:n.212-3688_212-3687delinsTC
NM_000053.3:c.2576-5_2576-4delinsTC	NP_000044.2:n.2576-5_2576-4delinsTC
NM_001005918.2:c.2090-5_2090-4delinsTC	NP_001005918.1:n.2090-5_2090-4delinsTC
NM_001243182.1:c.2243-5_2243-4delinsTC	NP_001230111.1:n.2243-5_2243-4delinsTC
XM_005266423.2:c.2480-5_2480-4delinsTC	XP_005266480.1:n.2480-5_2480-4delinsTC
XM_005266424.3:c.2480-5_2480-4delinsTC	XP_005266481.1:n.2480-5_2480-4delinsTC
XM_005266427.2:c.2342-5_2342-4delinsTC	XP_005266484.1:n.2342-5_2342-4delinsTC
XM_005266428.1:c.2324-5_2324-4delinsTC	XP_005266485.1:n.2324-5_2324-4delinsTC
XM_005266430.3:c.2576-5_2576-4delinsTC	XP_005266487.1:n.2576-5_2576-4delinsTC
XM_005266431.2:c.2540-5_2540-4delinsTC	XP_005266488.1:n.2540-5_2540-4delinsTC
XM_005266432.2:c.2090-5_2090-4delinsTC	XP_005266489.1:n.2090-5_2090-4delinsTC
XM_006719837.2:c.2480-5_2480-4delinsTC	XP_006719900.1:n.2480-5_2480-4delinsTC
XM_006719838.1:c.392-5_392-4delinsTC	XP_006719901.1:n.392-5_392-4delinsTC
XM_006719839.1:c.392-5_392-4delinsTC	XP_006719902.1:n.392-5_392-4delinsTC
XM_011535117.1:c.2480-5_2480-4delinsTC	XP_011533419.1:n.2480-5_2480-4delinsTC
XM_011535118.1:c.2576-5_2576-4delinsTC	XP_011533420.1:n.2576-5_2576-4delinsTC
XM_011535119.1:c.2576-5_2576-4delinsTC	XP_011533421.1:n.2576-5_2576-4delinsTC
XM_011535120.1:c.2162-5_2162-4delinsTC	XP_011533422.1:n.2162-5_2162-4delinsTC
XM_011535121.1:c.2576-5_2576-4delinsTC	XP_011533423.1:n.2576-5_2576-4delinsTC
XM_011535122.1:c.1244-5_1244-4delinsTC	XP_011533424.1:n.1244-5_1244-4delinsTC
XR_941601.1:n.2795-5_2795-4delinsTC
XR_941602.1:n.2795-5_2795-4delinsTC
XR_941603.1:n.2795-5_2795-4delinsTC
XR_941604.1:n.2795-5_2795-4delinsTC
NM_001330578.1:c.2342-5_2342-4delinsTC	NP_001317507.1:n.2342-5_2342-4delinsTC
NM_001330579.1:c.2324-5_2324-4delinsTC	NP_001317508.1:n.2324-5_2324-4delinsTC
XM_005266424.4:c.2480-5_2480-4delinsTC	XP_005266481.1:n.2480-5_2480-4delinsTC
XM_005266430.4:c.2576-5_2576-4delinsTC	XP_005266487.1:n.2576-5_2576-4delinsTC
XM_005266431.4:c.2540-5_2540-4delinsTC	XP_005266488.1:n.2540-5_2540-4delinsTC
XM_006719837.3:c.2480-5_2480-4delinsTC	XP_006719900.1:n.2480-5_2480-4delinsTC
XM_011535117.3:c.2480-5_2480-4delinsTC	XP_011533419.1:n.2480-5_2480-4delinsTC
XM_017020627.1:c.2480-5_2480-4delinsTC	XP_016876116.1:n.2480-5_2480-4delinsTC
NM_000053.4:c.2576-5_2576-4delinsTC MANE Select	NP_000044.2:n.2576-5_2576-4delinsTC
NM_001005918.3:c.2090-5_2090-4delinsTC	NP_001005918.1:n.2090-5_2090-4delinsTC
NM_001330579.2:c.2324-5_2324-4delinsTC	NP_001317508.1:n.2324-5_2324-4delinsTC
NM_001243182.2:c.2243-5_2243-4delinsTC	NP_001230111.1:n.2243-5_2243-4delinsTC
NM_001330578.2:c.2342-5_2342-4delinsTC	NP_001317507.1:n.2342-5_2342-4delinsTC