Canonical Allele Identifier: CA2523382262

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939223_51939224insTTTTTTAATGA , CM000675.2:g.51939223_51939224insTTTTTTAATGA	GRCh38
NC_000013.10:g.52513359_52513360insTTTTTTAATGA , CM000675.1:g.52513359_52513360insTTTTTTAATGA	GRCh37
NC_000013.9:g.51411360_51411361insTTTTTTAATGA	NCBI36
NG_008806.1:g.77272_77273insCATTAAAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1207-30_*1207-29insCATTAAAAAAT	ENSP00000489512.2:n.*1207-30_*1207-29insCATTAAAAAAT
ENST00000673864.2:c.*2301-30_*2301-29insCATTAAAAAAT	ENSP00000501045.2:n.*2301-30_*2301-29insCATTAAAAAAT
ENST00000674147.2:c.2936-30_2936-29insCATTAAAAAAT	ENSP00000500964.2:n.2936-30_2936-29insCATTAAAAAAT
ENST00000242839.10:c.3557-30_3557-29insCATTAAAAAAT MANE Select	ENSP00000242839.5:n.3557-30_3557-29insCATTAAAAAAT
ENST00000344297.9:c.2936-30_2936-29insCATTAAAAAAT	ENSP00000342559.5:n.2936-30_2936-29insCATTAAAAAAT
ENST00000400366.6:c.3224-30_3224-29insCATTAAAAAAT	ENSP00000383217.3:n.3224-30_3224-29insCATTAAAAAAT
ENST00000448424.7:c.3305-30_3305-29insCATTAAAAAAT	ENSP00000416738.3:n.3305-30_3305-29insCATTAAAAAAT
ENST00000673696.1:n.768_769insCATTAAAAAAT
ENST00000673772.1:c.3323-30_3323-29insCATTAAAAAAT	ENSP00000501168.1:n.3323-30_3323-29insCATTAAAAAAT
ENST00000673867.1:n.3696-30_3696-29insCATTAAAAAAT
ENST00000673923.1:n.393_394insCATTAAAAAAT
ENST00000674147.1:c.2492-30_2492-29insCATTAAAAAAT	ENSP00000500964.1:n.2492-30_2492-29insCATTAAAAAAT
ENST00000242839.8:c.3557-30_3557-29insCATTAAAAAAT	ENSP00000242839.4:n.3557-30_3557-29insCATTAAAAAAT
ENST00000344297.8:c.2936-30_2936-29insCATTAAAAAAT	ENSP00000342559.5:n.2936-30_2936-29insCATTAAAAAAT
ENST00000400366.5:c.3224-30_3224-29insCATTAAAAAAT	ENSP00000383217.3:n.3224-30_3224-29insCATTAAAAAAT
ENST00000400370.8:c.2267-30_2267-29insCATTAAAAAAT	ENSP00000383221.3:n.2267-30_2267-29insCATTAAAAAAT
ENST00000418097.7:c.3362-30_3362-29insCATTAAAAAAT	ENSP00000393343.2:n.3362-30_3362-29insCATTAAAAAAT
ENST00000448424.6:c.3323-30_3323-29insCATTAAAAAAT	ENSP00000416738.2:n.3323-30_3323-29insCATTAAAAAAT
ENST00000634296.1:c.1335-30_1335-29insCATTAAAAAAT
ENST00000634308.1:c.*658-30_*658-29insCATTAAAAAAT	ENSP00000489234.1:n.*658-30_*658-29insCATTAAAAAAT
ENST00000634620.1:n.4301-30_4301-29insCATTAAAAAAT
ENST00000634810.1:n.2902-30_2902-29insCATTAAAAAAT
ENST00000634844.1:c.3413-30_3413-29insCATTAAAAAAT	ENSP00000489398.1:n.3413-30_3413-29insCATTAAAAAAT
NM_000053.3:c.3557-30_3557-29insCATTAAAAAAT	NP_000044.2:n.3557-30_3557-29insCATTAAAAAAT
NM_001005918.2:c.2936-30_2936-29insCATTAAAAAAT	NP_001005918.1:n.2936-30_2936-29insCATTAAAAAAT
NM_001243182.1:c.3224-30_3224-29insCATTAAAAAAT	NP_001230111.1:n.3224-30_3224-29insCATTAAAAAAT
XM_005266423.2:c.3461-30_3461-29insCATTAAAAAAT	XP_005266480.1:n.3461-30_3461-29insCATTAAAAAAT
XM_005266424.3:c.3461-30_3461-29insCATTAAAAAAT	XP_005266481.1:n.3461-30_3461-29insCATTAAAAAAT
XM_005266427.2:c.3323-30_3323-29insCATTAAAAAAT	XP_005266484.1:n.3323-30_3323-29insCATTAAAAAAT
XM_005266428.1:c.3305-30_3305-29insCATTAAAAAAT	XP_005266485.1:n.3305-30_3305-29insCATTAAAAAAT
XM_005266430.3:c.3557-30_3557-29insCATTAAAAAAT	XP_005266487.1:n.3557-30_3557-29insCATTAAAAAAT
XM_005266431.2:c.3521-30_3521-29insCATTAAAAAAT	XP_005266488.1:n.3521-30_3521-29insCATTAAAAAAT
XM_005266432.2:c.3071-30_3071-29insCATTAAAAAAT	XP_005266489.1:n.3071-30_3071-29insCATTAAAAAAT
XM_006719837.2:c.3461-30_3461-29insCATTAAAAAAT	XP_006719900.1:n.3461-30_3461-29insCATTAAAAAAT
XM_006719838.1:c.1373-30_1373-29insCATTAAAAAAT	XP_006719901.1:n.1373-30_1373-29insCATTAAAAAAT
XM_006719839.1:c.1190-30_1190-29insCATTAAAAAAT	XP_006719902.1:n.1190-30_1190-29insCATTAAAAAAT
XM_011535117.1:c.3461-30_3461-29insCATTAAAAAAT	XP_011533419.1:n.3461-30_3461-29insCATTAAAAAAT
XM_011535118.1:c.3422-30_3422-29insCATTAAAAAAT	XP_011533420.1:n.3422-30_3422-29insCATTAAAAAAT
XM_011535119.1:c.3374-30_3374-29insCATTAAAAAAT	XP_011533421.1:n.3374-30_3374-29insCATTAAAAAAT
XM_011535120.1:c.3143-30_3143-29insCATTAAAAAAT	XP_011533422.1:n.3143-30_3143-29insCATTAAAAAAT
XM_011535121.1:c.3044-30_3044-29insCATTAAAAAAT	XP_011533423.1:n.3044-30_3044-29insCATTAAAAAAT
XM_011535122.1:c.2225-30_2225-29insCATTAAAAAAT	XP_011533424.1:n.2225-30_2225-29insCATTAAAAAAT
XR_941601.1:n.3776-30_3776-29insCATTAAAAAAT
XR_941602.1:n.3776-30_3776-29insCATTAAAAAAT
XR_941603.1:n.3776-30_3776-29insCATTAAAAAAT
XR_941604.1:n.3776-30_3776-29insCATTAAAAAAT
NM_001330578.1:c.3323-30_3323-29insCATTAAAAAAT	NP_001317507.1:n.3323-30_3323-29insCATTAAAAAAT
NM_001330579.1:c.3305-30_3305-29insCATTAAAAAAT	NP_001317508.1:n.3305-30_3305-29insCATTAAAAAAT
XM_005266424.4:c.3461-30_3461-29insCATTAAAAAAT	XP_005266481.1:n.3461-30_3461-29insCATTAAAAAAT
XM_005266430.4:c.3557-30_3557-29insCATTAAAAAAT	XP_005266487.1:n.3557-30_3557-29insCATTAAAAAAT
XM_005266431.4:c.3521-30_3521-29insCATTAAAAAAT	XP_005266488.1:n.3521-30_3521-29insCATTAAAAAAT
XM_006719837.3:c.3461-30_3461-29insCATTAAAAAAT	XP_006719900.1:n.3461-30_3461-29insCATTAAAAAAT
XM_011535117.3:c.3461-30_3461-29insCATTAAAAAAT	XP_011533419.1:n.3461-30_3461-29insCATTAAAAAAT
XM_017020627.1:c.3461-30_3461-29insCATTAAAAAAT	XP_016876116.1:n.3461-30_3461-29insCATTAAAAAAT
NM_000053.4:c.3557-30_3557-29insCATTAAAAAAT MANE Select	NP_000044.2:n.3557-30_3557-29insCATTAAAAAAT
NM_001005918.3:c.2936-30_2936-29insCATTAAAAAAT	NP_001005918.1:n.2936-30_2936-29insCATTAAAAAAT
NM_001330579.2:c.3305-30_3305-29insCATTAAAAAAT	NP_001317508.1:n.3305-30_3305-29insCATTAAAAAAT
NM_001243182.2:c.3224-30_3224-29insCATTAAAAAAT	NP_001230111.1:n.3224-30_3224-29insCATTAAAAAAT
NM_001330578.2:c.3323-30_3323-29insCATTAAAAAAT	NP_001317507.1:n.3323-30_3323-29insCATTAAAAAAT