Canonical Allele Identifier: CA2525040275

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939227_51939233del , CM000675.2:g.51939227_51939233del	GRCh38
NC_000013.10:g.52513363_52513369del , CM000675.1:g.52513363_52513369del	GRCh37
NC_000013.9:g.51411364_51411370del	NCBI36
NG_008806.1:g.77262_77268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1207-40_*1207-34del	ENSP00000489512.2:n.*1207-40_*1207-34del
ENST00000673864.2:c.*2301-40_*2301-34del	ENSP00000501045.2:n.*2301-40_*2301-34del
ENST00000674147.2:c.2936-40_2936-34del	ENSP00000500964.2:n.2936-40_2936-34del
ENST00000242839.10:c.3557-40_3557-34del MANE Select	ENSP00000242839.5:n.3557-40_3557-34del
ENST00000344297.9:c.2936-40_2936-34del	ENSP00000342559.5:n.2936-40_2936-34del
ENST00000400366.6:c.3224-40_3224-34del	ENSP00000383217.3:n.3224-40_3224-34del
ENST00000448424.7:c.3305-40_3305-34del	ENSP00000416738.3:n.3305-40_3305-34del
ENST00000673696.1:n.758_764del
ENST00000673772.1:c.3323-40_3323-34del	ENSP00000501168.1:n.3323-40_3323-34del
ENST00000673867.1:n.3696-40_3696-34del
ENST00000673923.1:n.383_389del
ENST00000674147.1:c.2492-40_2492-34del	ENSP00000500964.1:n.2492-40_2492-34del
ENST00000242839.8:c.3557-40_3557-34del	ENSP00000242839.4:n.3557-40_3557-34del
ENST00000344297.8:c.2936-40_2936-34del	ENSP00000342559.5:n.2936-40_2936-34del
ENST00000400366.5:c.3224-40_3224-34del	ENSP00000383217.3:n.3224-40_3224-34del
ENST00000400370.8:c.2267-40_2267-34del	ENSP00000383221.3:n.2267-40_2267-34del
ENST00000418097.7:c.3362-40_3362-34del	ENSP00000393343.2:n.3362-40_3362-34del
ENST00000448424.6:c.3323-40_3323-34del	ENSP00000416738.2:n.3323-40_3323-34del
ENST00000634296.1:c.1335-40_1335-34del
ENST00000634308.1:c.*658-40_*658-34del	ENSP00000489234.1:n.*658-40_*658-34del
ENST00000634620.1:n.4301-40_4301-34del
ENST00000634810.1:n.2902-40_2902-34del
ENST00000634844.1:c.3413-40_3413-34del	ENSP00000489398.1:n.3413-40_3413-34del
NM_000053.3:c.3557-40_3557-34del	NP_000044.2:n.3557-40_3557-34del
NM_001005918.2:c.2936-40_2936-34del	NP_001005918.1:n.2936-40_2936-34del
NM_001243182.1:c.3224-40_3224-34del	NP_001230111.1:n.3224-40_3224-34del
XM_005266423.2:c.3461-40_3461-34del	XP_005266480.1:n.3461-40_3461-34del
XM_005266424.3:c.3461-40_3461-34del	XP_005266481.1:n.3461-40_3461-34del
XM_005266427.2:c.3323-40_3323-34del	XP_005266484.1:n.3323-40_3323-34del
XM_005266428.1:c.3305-40_3305-34del	XP_005266485.1:n.3305-40_3305-34del
XM_005266430.3:c.3557-40_3557-34del	XP_005266487.1:n.3557-40_3557-34del
XM_005266431.2:c.3521-40_3521-34del	XP_005266488.1:n.3521-40_3521-34del
XM_005266432.2:c.3071-40_3071-34del	XP_005266489.1:n.3071-40_3071-34del
XM_006719837.2:c.3461-40_3461-34del	XP_006719900.1:n.3461-40_3461-34del
XM_006719838.1:c.1373-40_1373-34del	XP_006719901.1:n.1373-40_1373-34del
XM_006719839.1:c.1190-40_1190-34del	XP_006719902.1:n.1190-40_1190-34del
XM_011535117.1:c.3461-40_3461-34del	XP_011533419.1:n.3461-40_3461-34del
XM_011535118.1:c.3422-40_3422-34del	XP_011533420.1:n.3422-40_3422-34del
XM_011535119.1:c.3374-40_3374-34del	XP_011533421.1:n.3374-40_3374-34del
XM_011535120.1:c.3143-40_3143-34del	XP_011533422.1:n.3143-40_3143-34del
XM_011535121.1:c.3044-40_3044-34del	XP_011533423.1:n.3044-40_3044-34del
XM_011535122.1:c.2225-40_2225-34del	XP_011533424.1:n.2225-40_2225-34del
XR_941601.1:n.3776-40_3776-34del
XR_941602.1:n.3776-40_3776-34del
XR_941603.1:n.3776-40_3776-34del
XR_941604.1:n.3776-40_3776-34del
NM_001330578.1:c.3323-40_3323-34del	NP_001317507.1:n.3323-40_3323-34del
NM_001330579.1:c.3305-40_3305-34del	NP_001317508.1:n.3305-40_3305-34del
XM_005266424.4:c.3461-40_3461-34del	XP_005266481.1:n.3461-40_3461-34del
XM_005266430.4:c.3557-40_3557-34del	XP_005266487.1:n.3557-40_3557-34del
XM_005266431.4:c.3521-40_3521-34del	XP_005266488.1:n.3521-40_3521-34del
XM_006719837.3:c.3461-40_3461-34del	XP_006719900.1:n.3461-40_3461-34del
XM_011535117.3:c.3461-40_3461-34del	XP_011533419.1:n.3461-40_3461-34del
XM_017020627.1:c.3461-40_3461-34del	XP_016876116.1:n.3461-40_3461-34del
NM_000053.4:c.3557-40_3557-34del MANE Select	NP_000044.2:n.3557-40_3557-34del
NM_001005918.3:c.2936-40_2936-34del	NP_001005918.1:n.2936-40_2936-34del
NM_001330579.2:c.3305-40_3305-34del	NP_001317508.1:n.3305-40_3305-34del
NM_001243182.2:c.3224-40_3224-34del	NP_001230111.1:n.3224-40_3224-34del
NM_001330578.2:c.3323-40_3323-34del	NP_001317507.1:n.3323-40_3323-34del