Canonical Allele Identifier: CA2091559414

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941130_51941132delinsCAT , CM000675.2:g.51941130_51941132delinsCAT	GRCh38
NC_000013.10:g.52515266_52515268delinsCAT , CM000675.1:g.52515266_52515268delinsCAT	GRCh37
NC_000013.9:g.51413267_51413269delinsCAT	NCBI36
NG_008806.1:g.75363_75365delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1155_*1157delinsATG	ENSP00000489512.2:n.*1155_*1157delinsATG
ENST00000673864.2:c.*2249_*2251delinsATG	ENSP00000501045.2:n.*2249_*2251delinsATG
ENST00000674147.2:c.2884_2886delinsATG	ENSP00000500964.2:p.Met962=
ENST00000242839.10:c.3505_3507delinsATG MANE Select	ENSP00000242839.5:p.Met1169=
ENST00000344297.9:c.2884_2886delinsATG	ENSP00000342559.5:p.Met962=
ENST00000400366.6:c.3172_3174delinsATG	ENSP00000383217.3:p.Met1058=
ENST00000448424.7:c.3253_3255delinsATG	ENSP00000416738.3:p.Met1085=
ENST00000673772.1:c.3271_3273delinsATG	ENSP00000501168.1:p.Met1091=
ENST00000673867.1:n.3644_3646delinsATG
ENST00000674126.1:n.3868_3870delinsATG
ENST00000674147.1:c.2440_2442delinsATG	ENSP00000500964.1:p.Met814=
ENST00000242839.8:c.3505_3507delinsATG	ENSP00000242839.4:p.Met1169=
ENST00000344297.8:c.2884_2886delinsATG	ENSP00000342559.5:p.Met962=
ENST00000400366.5:c.3172_3174delinsATG	ENSP00000383217.3:p.Met1058=
ENST00000400370.8:c.2215_2217delinsATG	ENSP00000383221.3:p.Met739=
ENST00000418097.7:c.3310_3312delinsATG	ENSP00000393343.2:p.Met1104=
ENST00000448424.6:c.3271_3273delinsATG	ENSP00000416738.2:p.Met1091=
ENST00000634296.1:c.1283_1285delinsATG
ENST00000634308.1:c.*606_*608delinsATG	ENSP00000489234.1:n.*606_*608delinsATG
ENST00000634620.1:n.4249_4251delinsATG
ENST00000634810.1:n.2850_2852delinsATG
ENST00000634844.1:c.3361_3363delinsATG	ENSP00000489398.1:p.Met1121=
NM_000053.3:c.3505_3507delinsATG	NP_000044.2:p.Met1169=
NM_001005918.2:c.2884_2886delinsATG	NP_001005918.1:p.Met962=
NM_001243182.1:c.3172_3174delinsATG	NP_001230111.1:p.Met1058=
XM_005266423.2:c.3409_3411delinsATG	XP_005266480.1:p.Met1137=
XM_005266424.3:c.3409_3411delinsATG	XP_005266481.1:p.Met1137=
XM_005266427.2:c.3271_3273delinsATG	XP_005266484.1:p.Met1091=
XM_005266428.1:c.3253_3255delinsATG	XP_005266485.1:p.Met1085=
XM_005266430.3:c.3505_3507delinsATG	XP_005266487.1:p.Met1169=
XM_005266431.2:c.3469_3471delinsATG	XP_005266488.1:p.Met1157=
XM_005266432.2:c.3019_3021delinsATG	XP_005266489.1:p.Met1007=
XM_006719837.2:c.3409_3411delinsATG	XP_006719900.1:p.Met1137=
XM_006719838.1:c.1321_1323delinsATG	XP_006719901.1:p.Met441=
XM_006719839.1:c.1138_1140delinsATG	XP_006719902.1:p.Met380=
XM_011535117.1:c.3409_3411delinsATG	XP_011533419.1:p.Met1137=
XM_011535118.1:c.3370_3372delinsATG	XP_011533420.1:p.Met1124=
XM_011535119.1:c.3322_3324delinsATG	XP_011533421.1:p.Met1108=
XM_011535120.1:c.3091_3093delinsATG	XP_011533422.1:p.Met1031=
XM_011535121.1:c.2992_2994delinsATG	XP_011533423.1:p.Met998=
XM_011535122.1:c.2173_2175delinsATG	XP_011533424.1:p.Met725=
XR_941601.1:n.3724_3726delinsATG
XR_941602.1:n.3724_3726delinsATG
XR_941603.1:n.3724_3726delinsATG
XR_941604.1:n.3724_3726delinsATG
NM_001330578.1:c.3271_3273delinsATG	NP_001317507.1:p.Met1091=
NM_001330579.1:c.3253_3255delinsATG	NP_001317508.1:p.Met1085=
XM_005266424.4:c.3409_3411delinsATG	XP_005266481.1:p.Met1137=
XM_005266430.4:c.3505_3507delinsATG	XP_005266487.1:p.Met1169=
XM_005266431.4:c.3469_3471delinsATG	XP_005266488.1:p.Met1157=
XM_006719837.3:c.3409_3411delinsATG	XP_006719900.1:p.Met1137=
XM_011535117.3:c.3409_3411delinsATG	XP_011533419.1:p.Met1137=
XM_017020627.1:c.3409_3411delinsATG	XP_016876116.1:p.Met1137=
NM_000053.4:c.3505_3507delinsATG MANE Select	NP_000044.2:p.Met1169=
NM_001005918.3:c.2884_2886delinsATG	NP_001005918.1:p.Met962=
NM_001330579.2:c.3253_3255delinsATG	NP_001317508.1:p.Met1085=
NM_001243182.2:c.3172_3174delinsATG	NP_001230111.1:p.Met1058=
NM_001330578.2:c.3271_3273delinsATG	NP_001317507.1:p.Met1091=