Canonical Allele Identifier: CA2091542560

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957925504

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950411_51950412insGCACTTATCACTCACATGG , CM000675.2:g.51950411_51950412insGCACTTATCACTCACATGG	GRCh38
NC_000013.10:g.52524547_52524548insGCACTTATCACTCACATGG , CM000675.1:g.52524547_52524548insGCACTTATCACTCACATGG	GRCh37
NC_000013.9:g.51422548_51422549insGCACTTATCACTCACATGG	NCBI36
NG_008806.1:g.66084_66085insCATGTGAGTGATAAGTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*281-12_*281-11insCATGTGAGTGATAAGTGCC	ENSP00000489512.2:n.*281-12_*281-11insCATGTGAGTGATAAGTGCC
ENST00000673864.2:c.*1192-12_*1192-11insCATGTGAGTGATAAGTGCC	ENSP00000501045.2:n.*1192-12_*1192-11insCATGTGAGTGATAAGTGCC
ENST00000674147.2:c.1962-12_1962-11insCATGTGAGTGATAAGTGCC	ENSP00000500964.2:n.1962-12_1962-11insCATGTGAGTGATAAGTGCC
ENST00000242839.10:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC MANE Select	ENSP00000242839.5:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
ENST00000344297.9:c.1962-12_1962-11insCATGTGAGTGATAAGTGCC	ENSP00000342559.5:n.1962-12_1962-11insCATGTGAGTGATAAGTGCC
ENST00000400366.6:c.2115-12_2115-11insCATGTGAGTGATAAGTGCC	ENSP00000383217.3:n.2115-12_2115-11insCATGTGAGTGATAAGTGCC
ENST00000448424.7:c.2196-12_2196-11insCATGTGAGTGATAAGTGCC	ENSP00000416738.3:n.2196-12_2196-11insCATGTGAGTGATAAGTGCC
ENST00000673772.1:c.2214-12_2214-11insCATGTGAGTGATAAGTGCC	ENSP00000501168.1:n.2214-12_2214-11insCATGTGAGTGATAAGTGCC
ENST00000674147.1:c.1518-12_1518-11insCATGTGAGTGATAAGTGCC	ENSP00000500964.1:n.1518-12_1518-11insCATGTGAGTGATAAGTGCC
ENST00000242839.8:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	ENSP00000242839.4:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
ENST00000344297.8:c.1962-12_1962-11insCATGTGAGTGATAAGTGCC	ENSP00000342559.5:n.1962-12_1962-11insCATGTGAGTGATAAGTGCC
ENST00000400366.5:c.2115-12_2115-11insCATGTGAGTGATAAGTGCC	ENSP00000383217.3:n.2115-12_2115-11insCATGTGAGTGATAAGTGCC
ENST00000400370.8:c.1286-250_1286-249insCATGTGAGTGATAAGTGCC	ENSP00000383221.3:n.1286-250_1286-249insCATGTGAGTGATAAGTGCC
ENST00000418097.7:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	ENSP00000393343.2:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
ENST00000448424.6:c.2214-12_2214-11insCATGTGAGTGATAAGTGCC	ENSP00000416738.2:n.2214-12_2214-11insCATGTGAGTGATAAGTGCC
ENST00000634296.1:c.409-12_409-11insCATGTGAGTGATAAGTGCC
ENST00000634308.1:c.2214-12_2214-11insCATGTGAGTGATAAGTGCC	ENSP00000489234.1:n.2214-12_2214-11insCATGTGAGTGATAAGTGCC
ENST00000634620.1:n.3246-12_3246-11insCATGTGAGTGATAAGTGCC
ENST00000634810.1:n.1793-12_1793-11insCATGTGAGTGATAAGTGCC
ENST00000634844.1:c.2304-12_2304-11insCATGTGAGTGATAAGTGCC	ENSP00000489398.1:n.2304-12_2304-11insCATGTGAGTGATAAGTGCC
ENST00000635406.1:n.212-3933_212-3932insCATGTGAGTGATAAGTGCC
NM_000053.3:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	NP_000044.2:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
NM_001005918.2:c.1962-12_1962-11insCATGTGAGTGATAAGTGCC	NP_001005918.1:n.1962-12_1962-11insCATGTGAGTGATAAGTGCC
NM_001243182.1:c.2115-12_2115-11insCATGTGAGTGATAAGTGCC	NP_001230111.1:n.2115-12_2115-11insCATGTGAGTGATAAGTGCC
XM_005266423.2:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_005266480.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_005266424.3:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_005266481.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_005266427.2:c.2214-12_2214-11insCATGTGAGTGATAAGTGCC	XP_005266484.1:n.2214-12_2214-11insCATGTGAGTGATAAGTGCC
XM_005266428.1:c.2196-12_2196-11insCATGTGAGTGATAAGTGCC	XP_005266485.1:n.2196-12_2196-11insCATGTGAGTGATAAGTGCC
XM_005266430.3:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	XP_005266487.1:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
XM_005266431.2:c.2412-12_2412-11insCATGTGAGTGATAAGTGCC	XP_005266488.1:n.2412-12_2412-11insCATGTGAGTGATAAGTGCC
XM_005266432.2:c.1962-12_1962-11insCATGTGAGTGATAAGTGCC	XP_005266489.1:n.1962-12_1962-11insCATGTGAGTGATAAGTGCC
XM_006719837.2:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_006719900.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_006719838.1:c.264-12_264-11insCATGTGAGTGATAAGTGCC	XP_006719901.1:n.264-12_264-11insCATGTGAGTGATAAGTGCC
XM_006719839.1:c.264-12_264-11insCATGTGAGTGATAAGTGCC	XP_006719902.1:n.264-12_264-11insCATGTGAGTGATAAGTGCC
XM_011535117.1:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_011533419.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_011535118.1:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	XP_011533420.1:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
XM_011535119.1:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	XP_011533421.1:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
XM_011535120.1:c.2034-12_2034-11insCATGTGAGTGATAAGTGCC	XP_011533422.1:n.2034-12_2034-11insCATGTGAGTGATAAGTGCC
XM_011535121.1:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	XP_011533423.1:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
XM_011535122.1:c.1116-12_1116-11insCATGTGAGTGATAAGTGCC	XP_011533424.1:n.1116-12_1116-11insCATGTGAGTGATAAGTGCC
XR_941601.1:n.2667-12_2667-11insCATGTGAGTGATAAGTGCC
XR_941602.1:n.2667-12_2667-11insCATGTGAGTGATAAGTGCC
XR_941603.1:n.2667-12_2667-11insCATGTGAGTGATAAGTGCC
XR_941604.1:n.2667-12_2667-11insCATGTGAGTGATAAGTGCC
NM_001330578.1:c.2214-12_2214-11insCATGTGAGTGATAAGTGCC	NP_001317507.1:n.2214-12_2214-11insCATGTGAGTGATAAGTGCC
NM_001330579.1:c.2196-12_2196-11insCATGTGAGTGATAAGTGCC	NP_001317508.1:n.2196-12_2196-11insCATGTGAGTGATAAGTGCC
XM_005266424.4:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_005266481.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_005266430.4:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC	XP_005266487.1:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
XM_005266431.4:c.2412-12_2412-11insCATGTGAGTGATAAGTGCC	XP_005266488.1:n.2412-12_2412-11insCATGTGAGTGATAAGTGCC
XM_006719837.3:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_006719900.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_011535117.3:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_011533419.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
XM_017020627.1:c.2352-12_2352-11insCATGTGAGTGATAAGTGCC	XP_016876116.1:n.2352-12_2352-11insCATGTGAGTGATAAGTGCC
NM_000053.4:c.2448-12_2448-11insCATGTGAGTGATAAGTGCC MANE Select	NP_000044.2:n.2448-12_2448-11insCATGTGAGTGATAAGTGCC
NM_001005918.3:c.1962-12_1962-11insCATGTGAGTGATAAGTGCC	NP_001005918.1:n.1962-12_1962-11insCATGTGAGTGATAAGTGCC
NM_001330579.2:c.2196-12_2196-11insCATGTGAGTGATAAGTGCC	NP_001317508.1:n.2196-12_2196-11insCATGTGAGTGATAAGTGCC
NM_001243182.2:c.2115-12_2115-11insCATGTGAGTGATAAGTGCC	NP_001230111.1:n.2115-12_2115-11insCATGTGAGTGATAAGTGCC
NM_001330578.2:c.2214-12_2214-11insCATGTGAGTGATAAGTGCC	NP_001317507.1:n.2214-12_2214-11insCATGTGAGTGATAAGTGCC