Canonical Allele Identifier: CA2091566222

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946467_51946470delinsCTTG , CM000675.2:g.51946467_51946470delinsCTTG	GRCh38
NC_000013.10:g.52520603_52520606delinsCTTG , CM000675.1:g.52520603_52520606delinsCTTG	GRCh37
NC_000013.9:g.51418604_51418607delinsCTTG	NCBI36
NG_008806.1:g.70025_70028delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*707_*710delinsCAAG	ENSP00000489512.2:n.*707_*710delinsCAAG
ENST00000673864.2:c.*1618_*1621delinsCAAG	ENSP00000501045.2:n.*1618_*1621delinsCAAG
ENST00000674147.2:c.2253_2256delinsCAAG	ENSP00000500964.2:p.Asn751=
ENST00000242839.10:c.2874_2877delinsCAAG MANE Select	ENSP00000242839.5:p.Asn958=
ENST00000344297.9:c.2253_2256delinsCAAG	ENSP00000342559.5:p.Asn751=
ENST00000400366.6:c.2541_2544delinsCAAG	ENSP00000383217.3:p.Asn847=
ENST00000448424.7:c.2622_2625delinsCAAG	ENSP00000416738.3:p.Asn874=
ENST00000673772.1:c.2640_2643delinsCAAG	ENSP00000501168.1:p.Asn880=
ENST00000673867.1:n.1021_1024delinsCAAG
ENST00000674126.1:n.3237_3240delinsCAAG
ENST00000674147.1:c.1809_1812delinsCAAG	ENSP00000500964.1:p.Asn603=
ENST00000242839.8:c.2874_2877delinsCAAG	ENSP00000242839.4:p.Asn958=
ENST00000344297.8:c.2253_2256delinsCAAG	ENSP00000342559.5:p.Asn751=
ENST00000400366.5:c.2541_2544delinsCAAG	ENSP00000383217.3:p.Asn847=
ENST00000400370.8:c.1584_1587delinsCAAG	ENSP00000383221.3:p.Asn528=
ENST00000418097.7:c.2866-2179_2866-2176delinsCAAG	ENSP00000393343.2:n.2866-2179_2866-2176delinsCAAG
ENST00000448424.6:c.2640_2643delinsCAAG	ENSP00000416738.2:p.Asn880=
ENST00000466629.1:n.94_97delinsCAAG
ENST00000634296.1:c.835_838delinsCAAG
ENST00000634308.1:c.2660_2663delinsCAAG	ENSP00000489234.1:p.Thr887=
ENST00000634620.1:n.3618_3621delinsCAAG
ENST00000634810.1:n.2219_2222delinsCAAG
ENST00000634844.1:c.2730_2733delinsCAAG	ENSP00000489398.1:p.Asn910=
ENST00000635406.1:n.220_223delinsCAAG
NM_000053.3:c.2874_2877delinsCAAG	NP_000044.2:p.Asn958=
NM_001005918.2:c.2253_2256delinsCAAG	NP_001005918.1:p.Asn751=
NM_001243182.1:c.2541_2544delinsCAAG	NP_001230111.1:p.Asn847=
XM_005266423.2:c.2778_2781delinsCAAG	XP_005266480.1:p.Asn926=
XM_005266424.3:c.2778_2781delinsCAAG	XP_005266481.1:p.Asn926=
XM_005266427.2:c.2640_2643delinsCAAG	XP_005266484.1:p.Asn880=
XM_005266428.1:c.2622_2625delinsCAAG	XP_005266485.1:p.Asn874=
XM_005266430.3:c.2874_2877delinsCAAG	XP_005266487.1:p.Asn958=
XM_005266431.2:c.2838_2841delinsCAAG	XP_005266488.1:p.Asn946=
XM_005266432.2:c.2388_2391delinsCAAG	XP_005266489.1:p.Asn796=
XM_006719837.2:c.2778_2781delinsCAAG	XP_006719900.1:p.Asn926=
XM_006719838.1:c.690_693delinsCAAG	XP_006719901.1:p.Asn230=
XM_006719839.1:c.690_693delinsCAAG	XP_006719902.1:p.Asn230=
XM_011535117.1:c.2778_2781delinsCAAG	XP_011533419.1:p.Asn926=
XM_011535118.1:c.2739_2742delinsCAAG	XP_011533420.1:p.Asn913=
XM_011535119.1:c.2874_2877delinsCAAG	XP_011533421.1:p.Asn958=
XM_011535120.1:c.2460_2463delinsCAAG	XP_011533422.1:p.Asn820=
XM_011535121.1:c.2730+3537_2730+3540delinsCAAG	XP_011533423.1:n.2730+3537_2730+3540delinsCAAG
XM_011535122.1:c.1542_1545delinsCAAG	XP_011533424.1:p.Asn514=
XR_941601.1:n.3093_3096delinsCAAG
XR_941602.1:n.3093_3096delinsCAAG
XR_941603.1:n.3093_3096delinsCAAG
XR_941604.1:n.3093_3096delinsCAAG
NM_001330578.1:c.2640_2643delinsCAAG	NP_001317507.1:p.Asn880=
NM_001330579.1:c.2622_2625delinsCAAG	NP_001317508.1:p.Asn874=
XM_005266424.4:c.2778_2781delinsCAAG	XP_005266481.1:p.Asn926=
XM_005266430.4:c.2874_2877delinsCAAG	XP_005266487.1:p.Asn958=
XM_005266431.4:c.2838_2841delinsCAAG	XP_005266488.1:p.Asn946=
XM_006719837.3:c.2778_2781delinsCAAG	XP_006719900.1:p.Asn926=
XM_011535117.3:c.2778_2781delinsCAAG	XP_011533419.1:p.Asn926=
XM_017020627.1:c.2778_2781delinsCAAG	XP_016876116.1:p.Asn926=
NM_000053.4:c.2874_2877delinsCAAG MANE Select	NP_000044.2:p.Asn958=
NM_001005918.3:c.2253_2256delinsCAAG	NP_001005918.1:p.Asn751=
NM_001330579.2:c.2622_2625delinsCAAG	NP_001317508.1:p.Asn874=
NM_001243182.2:c.2541_2544delinsCAAG	NP_001230111.1:p.Asn847=
NM_001330578.2:c.2640_2643delinsCAAG	NP_001317507.1:p.Asn880=