Canonical Allele Identifier: CA2091557071

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939244_51939245delinsAC , CM000675.2:g.51939244_51939245delinsAC	GRCh38
NC_000013.10:g.52513380_52513381delinsAC , CM000675.1:g.52513380_52513381delinsAC	GRCh37
NC_000013.9:g.51411381_51411382delinsAC	NCBI36
NG_008806.1:g.77250_77251delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1207-52_*1207-51delinsGT	ENSP00000489512.2:n.*1207-52_*1207-51delinsGT
ENST00000673864.2:c.*2301-52_*2301-51delinsGT	ENSP00000501045.2:n.*2301-52_*2301-51delinsGT
ENST00000674147.2:c.2936-52_2936-51delinsGT	ENSP00000500964.2:n.2936-52_2936-51delinsGT
ENST00000242839.10:c.3557-52_3557-51delinsGT MANE Select	ENSP00000242839.5:n.3557-52_3557-51delinsGT
ENST00000344297.9:c.2936-52_2936-51delinsGT	ENSP00000342559.5:n.2936-52_2936-51delinsGT
ENST00000400366.6:c.3224-52_3224-51delinsGT	ENSP00000383217.3:n.3224-52_3224-51delinsGT
ENST00000448424.7:c.3305-52_3305-51delinsGT	ENSP00000416738.3:n.3305-52_3305-51delinsGT
ENST00000673696.1:n.746_747delinsGT
ENST00000673772.1:c.3323-52_3323-51delinsGT	ENSP00000501168.1:n.3323-52_3323-51delinsGT
ENST00000673867.1:n.3696-52_3696-51delinsGT
ENST00000673923.1:n.371_372delinsGT
ENST00000674147.1:c.2492-52_2492-51delinsGT	ENSP00000500964.1:n.2492-52_2492-51delinsGT
ENST00000242839.8:c.3557-52_3557-51delinsGT	ENSP00000242839.4:n.3557-52_3557-51delinsGT
ENST00000344297.8:c.2936-52_2936-51delinsGT	ENSP00000342559.5:n.2936-52_2936-51delinsGT
ENST00000400366.5:c.3224-52_3224-51delinsGT	ENSP00000383217.3:n.3224-52_3224-51delinsGT
ENST00000400370.8:c.2267-52_2267-51delinsGT	ENSP00000383221.3:n.2267-52_2267-51delinsGT
ENST00000418097.7:c.3362-52_3362-51delinsGT	ENSP00000393343.2:n.3362-52_3362-51delinsGT
ENST00000448424.6:c.3323-52_3323-51delinsGT	ENSP00000416738.2:n.3323-52_3323-51delinsGT
ENST00000634296.1:c.1335-52_1335-51delinsGT
ENST00000634308.1:c.*658-52_*658-51delinsGT	ENSP00000489234.1:n.*658-52_*658-51delinsGT
ENST00000634620.1:n.4301-52_4301-51delinsGT
ENST00000634810.1:n.2902-52_2902-51delinsGT
ENST00000634844.1:c.3413-52_3413-51delinsGT	ENSP00000489398.1:n.3413-52_3413-51delinsGT
NM_000053.3:c.3557-52_3557-51delinsGT	NP_000044.2:n.3557-52_3557-51delinsGT
NM_001005918.2:c.2936-52_2936-51delinsGT	NP_001005918.1:n.2936-52_2936-51delinsGT
NM_001243182.1:c.3224-52_3224-51delinsGT	NP_001230111.1:n.3224-52_3224-51delinsGT
XM_005266423.2:c.3461-52_3461-51delinsGT	XP_005266480.1:n.3461-52_3461-51delinsGT
XM_005266424.3:c.3461-52_3461-51delinsGT	XP_005266481.1:n.3461-52_3461-51delinsGT
XM_005266427.2:c.3323-52_3323-51delinsGT	XP_005266484.1:n.3323-52_3323-51delinsGT
XM_005266428.1:c.3305-52_3305-51delinsGT	XP_005266485.1:n.3305-52_3305-51delinsGT
XM_005266430.3:c.3557-52_3557-51delinsGT	XP_005266487.1:n.3557-52_3557-51delinsGT
XM_005266431.2:c.3521-52_3521-51delinsGT	XP_005266488.1:n.3521-52_3521-51delinsGT
XM_005266432.2:c.3071-52_3071-51delinsGT	XP_005266489.1:n.3071-52_3071-51delinsGT
XM_006719837.2:c.3461-52_3461-51delinsGT	XP_006719900.1:n.3461-52_3461-51delinsGT
XM_006719838.1:c.1373-52_1373-51delinsGT	XP_006719901.1:n.1373-52_1373-51delinsGT
XM_006719839.1:c.1190-52_1190-51delinsGT	XP_006719902.1:n.1190-52_1190-51delinsGT
XM_011535117.1:c.3461-52_3461-51delinsGT	XP_011533419.1:n.3461-52_3461-51delinsGT
XM_011535118.1:c.3422-52_3422-51delinsGT	XP_011533420.1:n.3422-52_3422-51delinsGT
XM_011535119.1:c.3374-52_3374-51delinsGT	XP_011533421.1:n.3374-52_3374-51delinsGT
XM_011535120.1:c.3143-52_3143-51delinsGT	XP_011533422.1:n.3143-52_3143-51delinsGT
XM_011535121.1:c.3044-52_3044-51delinsGT	XP_011533423.1:n.3044-52_3044-51delinsGT
XM_011535122.1:c.2225-52_2225-51delinsGT	XP_011533424.1:n.2225-52_2225-51delinsGT
XR_941601.1:n.3776-52_3776-51delinsGT
XR_941602.1:n.3776-52_3776-51delinsGT
XR_941603.1:n.3776-52_3776-51delinsGT
XR_941604.1:n.3776-52_3776-51delinsGT
NM_001330578.1:c.3323-52_3323-51delinsGT	NP_001317507.1:n.3323-52_3323-51delinsGT
NM_001330579.1:c.3305-52_3305-51delinsGT	NP_001317508.1:n.3305-52_3305-51delinsGT
XM_005266424.4:c.3461-52_3461-51delinsGT	XP_005266481.1:n.3461-52_3461-51delinsGT
XM_005266430.4:c.3557-52_3557-51delinsGT	XP_005266487.1:n.3557-52_3557-51delinsGT
XM_005266431.4:c.3521-52_3521-51delinsGT	XP_005266488.1:n.3521-52_3521-51delinsGT
XM_006719837.3:c.3461-52_3461-51delinsGT	XP_006719900.1:n.3461-52_3461-51delinsGT
XM_011535117.3:c.3461-52_3461-51delinsGT	XP_011533419.1:n.3461-52_3461-51delinsGT
XM_017020627.1:c.3461-52_3461-51delinsGT	XP_016876116.1:n.3461-52_3461-51delinsGT
NM_000053.4:c.3557-52_3557-51delinsGT MANE Select	NP_000044.2:n.3557-52_3557-51delinsGT
NM_001005918.3:c.2936-52_2936-51delinsGT	NP_001005918.1:n.2936-52_2936-51delinsGT
NM_001330579.2:c.3305-52_3305-51delinsGT	NP_001317508.1:n.3305-52_3305-51delinsGT
NM_001243182.2:c.3224-52_3224-51delinsGT	NP_001230111.1:n.3224-52_3224-51delinsGT
NM_001330578.2:c.3323-52_3323-51delinsGT	NP_001317507.1:n.3323-52_3323-51delinsGT