Canonical Allele Identifier: CA2091559588

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941203_51941206delinsGAGA , CM000675.2:g.51941203_51941206delinsGAGA	GRCh38
NC_000013.10:g.52515339_52515342delinsGAGA , CM000675.1:g.52515339_52515342delinsGAGA	GRCh37
NC_000013.9:g.51413340_51413343delinsGAGA	NCBI36
NG_008806.1:g.75289_75292delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1081_*1084delinsTCTC	ENSP00000489512.2:n.*1081_*1084delinsTCTC
ENST00000673864.2:c.*2175_*2178delinsTCTC	ENSP00000501045.2:n.*2175_*2178delinsTCTC
ENST00000674147.2:c.2810_2813delinsTCTC	ENSP00000500964.2:p.Phe937=
ENST00000242839.10:c.3431_3434delinsTCTC MANE Select	ENSP00000242839.5:p.Phe1144=
ENST00000344297.9:c.2810_2813delinsTCTC	ENSP00000342559.5:p.Phe937=
ENST00000400366.6:c.3098_3101delinsTCTC	ENSP00000383217.3:p.Phe1033=
ENST00000448424.7:c.3179_3182delinsTCTC	ENSP00000416738.3:p.Phe1060=
ENST00000673772.1:c.3197_3200delinsTCTC	ENSP00000501168.1:p.Phe1066=
ENST00000673867.1:n.3570_3573delinsTCTC
ENST00000674126.1:n.3794_3797delinsTCTC
ENST00000674147.1:c.2366_2369delinsTCTC	ENSP00000500964.1:p.Phe789=
ENST00000242839.8:c.3431_3434delinsTCTC	ENSP00000242839.4:p.Phe1144=
ENST00000344297.8:c.2810_2813delinsTCTC	ENSP00000342559.5:p.Phe937=
ENST00000400366.5:c.3098_3101delinsTCTC	ENSP00000383217.3:p.Phe1033=
ENST00000400370.8:c.2141_2144delinsTCTC	ENSP00000383221.3:p.Phe714=
ENST00000418097.7:c.3236_3239delinsTCTC	ENSP00000393343.2:p.Phe1079=
ENST00000448424.6:c.3197_3200delinsTCTC	ENSP00000416738.2:p.Phe1066=
ENST00000634296.1:c.1209_1212delinsTCTC
ENST00000634308.1:c.*532_*535delinsTCTC	ENSP00000489234.1:n.*532_*535delinsTCTC
ENST00000634620.1:n.4175_4178delinsTCTC
ENST00000634810.1:n.2776_2779delinsTCTC
ENST00000634844.1:c.3287_3290delinsTCTC	ENSP00000489398.1:p.Phe1096=
NM_000053.3:c.3431_3434delinsTCTC	NP_000044.2:p.Phe1144=
NM_001005918.2:c.2810_2813delinsTCTC	NP_001005918.1:p.Phe937=
NM_001243182.1:c.3098_3101delinsTCTC	NP_001230111.1:p.Phe1033=
XM_005266423.2:c.3335_3338delinsTCTC	XP_005266480.1:p.Phe1112=
XM_005266424.3:c.3335_3338delinsTCTC	XP_005266481.1:p.Phe1112=
XM_005266427.2:c.3197_3200delinsTCTC	XP_005266484.1:p.Phe1066=
XM_005266428.1:c.3179_3182delinsTCTC	XP_005266485.1:p.Phe1060=
XM_005266430.3:c.3431_3434delinsTCTC	XP_005266487.1:p.Phe1144=
XM_005266431.2:c.3395_3398delinsTCTC	XP_005266488.1:p.Phe1132=
XM_005266432.2:c.2945_2948delinsTCTC	XP_005266489.1:p.Phe982=
XM_006719837.2:c.3335_3338delinsTCTC	XP_006719900.1:p.Phe1112=
XM_006719838.1:c.1247_1250delinsTCTC	XP_006719901.1:p.Phe416=
XM_006719839.1:c.1064_1067delinsTCTC	XP_006719902.1:p.Phe355=
XM_011535117.1:c.3335_3338delinsTCTC	XP_011533419.1:p.Phe1112=
XM_011535118.1:c.3296_3299delinsTCTC	XP_011533420.1:p.Phe1099=
XM_011535119.1:c.3248_3251delinsTCTC	XP_011533421.1:p.Phe1083=
XM_011535120.1:c.3017_3020delinsTCTC	XP_011533422.1:p.Phe1006=
XM_011535121.1:c.2918_2921delinsTCTC	XP_011533423.1:p.Phe973=
XM_011535122.1:c.2099_2102delinsTCTC	XP_011533424.1:p.Phe700=
XR_941601.1:n.3650_3653delinsTCTC
XR_941602.1:n.3650_3653delinsTCTC
XR_941603.1:n.3650_3653delinsTCTC
XR_941604.1:n.3650_3653delinsTCTC
NM_001330578.1:c.3197_3200delinsTCTC	NP_001317507.1:p.Phe1066=
NM_001330579.1:c.3179_3182delinsTCTC	NP_001317508.1:p.Phe1060=
XM_005266424.4:c.3335_3338delinsTCTC	XP_005266481.1:p.Phe1112=
XM_005266430.4:c.3431_3434delinsTCTC	XP_005266487.1:p.Phe1144=
XM_005266431.4:c.3395_3398delinsTCTC	XP_005266488.1:p.Phe1132=
XM_006719837.3:c.3335_3338delinsTCTC	XP_006719900.1:p.Phe1112=
XM_011535117.3:c.3335_3338delinsTCTC	XP_011533419.1:p.Phe1112=
XM_017020627.1:c.3335_3338delinsTCTC	XP_016876116.1:p.Phe1112=
NM_000053.4:c.3431_3434delinsTCTC MANE Select	NP_000044.2:p.Phe1144=
NM_001005918.3:c.2810_2813delinsTCTC	NP_001005918.1:p.Phe937=
NM_001330579.2:c.3179_3182delinsTCTC	NP_001317508.1:p.Phe1060=
NM_001243182.2:c.3098_3101delinsTCTC	NP_001230111.1:p.Phe1033=
NM_001330578.2:c.3197_3200delinsTCTC	NP_001317507.1:p.Phe1066=