Canonical Allele Identifier: CA2623119849

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941374-CAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941383_51941387del , CM000675.2:g.51941383_51941387del	GRCh38
NC_000013.10:g.52515519_52515523del , CM000675.1:g.52515519_52515523del	GRCh37
NC_000013.9:g.51413520_51413524del	NCBI36
NG_008806.1:g.75116_75120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1063-155_*1063-151del	ENSP00000489512.2:n.*1063-155_*1063-151del
ENST00000673864.2:c.*2157-155_*2157-151del	ENSP00000501045.2:n.*2157-155_*2157-151del
ENST00000674147.2:c.2792-155_2792-151del	ENSP00000500964.2:n.2792-155_2792-151del
ENST00000242839.10:c.3413-155_3413-151del MANE Select	ENSP00000242839.5:n.3413-155_3413-151del
ENST00000344297.9:c.2792-155_2792-151del	ENSP00000342559.5:n.2792-155_2792-151del
ENST00000400366.6:c.3080-155_3080-151del	ENSP00000383217.3:n.3080-155_3080-151del
ENST00000448424.7:c.3161-155_3161-151del	ENSP00000416738.3:n.3161-155_3161-151del
ENST00000673772.1:c.3179-155_3179-151del	ENSP00000501168.1:n.3179-155_3179-151del
ENST00000673867.1:n.3552-155_3552-151del
ENST00000674126.1:n.3776-155_3776-151del
ENST00000674147.1:c.2348-155_2348-151del	ENSP00000500964.1:n.2348-155_2348-151del
ENST00000242839.8:c.3413-155_3413-151del	ENSP00000242839.4:n.3413-155_3413-151del
ENST00000344297.8:c.2792-155_2792-151del	ENSP00000342559.5:n.2792-155_2792-151del
ENST00000400366.5:c.3080-155_3080-151del	ENSP00000383217.3:n.3080-155_3080-151del
ENST00000400370.8:c.2123-155_2123-151del	ENSP00000383221.3:n.2123-155_2123-151del
ENST00000418097.7:c.3218-155_3218-151del	ENSP00000393343.2:n.3218-155_3218-151del
ENST00000448424.6:c.3179-155_3179-151del	ENSP00000416738.2:n.3179-155_3179-151del
ENST00000634296.1:c.1191-155_1191-151del
ENST00000634308.1:c.*514-155_*514-151del	ENSP00000489234.1:n.*514-155_*514-151del
ENST00000634620.1:n.4157-155_4157-151del
ENST00000634810.1:n.2758-155_2758-151del
ENST00000634844.1:c.3269-155_3269-151del	ENSP00000489398.1:n.3269-155_3269-151del
NM_000053.3:c.3413-155_3413-151del	NP_000044.2:n.3413-155_3413-151del
NM_001005918.2:c.2792-155_2792-151del	NP_001005918.1:n.2792-155_2792-151del
NM_001243182.1:c.3080-155_3080-151del	NP_001230111.1:n.3080-155_3080-151del
XM_005266423.2:c.3317-155_3317-151del	XP_005266480.1:n.3317-155_3317-151del
XM_005266424.3:c.3317-155_3317-151del	XP_005266481.1:n.3317-155_3317-151del
XM_005266427.2:c.3179-155_3179-151del	XP_005266484.1:n.3179-155_3179-151del
XM_005266428.1:c.3161-155_3161-151del	XP_005266485.1:n.3161-155_3161-151del
XM_005266430.3:c.3413-155_3413-151del	XP_005266487.1:n.3413-155_3413-151del
XM_005266431.2:c.3377-155_3377-151del	XP_005266488.1:n.3377-155_3377-151del
XM_005266432.2:c.2927-155_2927-151del	XP_005266489.1:n.2927-155_2927-151del
XM_006719837.2:c.3317-155_3317-151del	XP_006719900.1:n.3317-155_3317-151del
XM_006719838.1:c.1229-155_1229-151del	XP_006719901.1:n.1229-155_1229-151del
XM_006719839.1:c.1046-155_1046-151del	XP_006719902.1:n.1046-155_1046-151del
XM_011535117.1:c.3317-155_3317-151del	XP_011533419.1:n.3317-155_3317-151del
XM_011535118.1:c.3278-155_3278-151del	XP_011533420.1:n.3278-155_3278-151del
XM_011535119.1:c.3230-155_3230-151del	XP_011533421.1:n.3230-155_3230-151del
XM_011535120.1:c.2999-155_2999-151del	XP_011533422.1:n.2999-155_2999-151del
XM_011535121.1:c.2900-155_2900-151del	XP_011533423.1:n.2900-155_2900-151del
XM_011535122.1:c.2081-155_2081-151del	XP_011533424.1:n.2081-155_2081-151del
XR_941601.1:n.3632-155_3632-151del
XR_941602.1:n.3632-155_3632-151del
XR_941603.1:n.3632-155_3632-151del
XR_941604.1:n.3632-155_3632-151del
NM_001330578.1:c.3179-155_3179-151del	NP_001317507.1:n.3179-155_3179-151del
NM_001330579.1:c.3161-155_3161-151del	NP_001317508.1:n.3161-155_3161-151del
XM_005266424.4:c.3317-155_3317-151del	XP_005266481.1:n.3317-155_3317-151del
XM_005266430.4:c.3413-155_3413-151del	XP_005266487.1:n.3413-155_3413-151del
XM_005266431.4:c.3377-155_3377-151del	XP_005266488.1:n.3377-155_3377-151del
XM_006719837.3:c.3317-155_3317-151del	XP_006719900.1:n.3317-155_3317-151del
XM_011535117.3:c.3317-155_3317-151del	XP_011533419.1:n.3317-155_3317-151del
XM_017020627.1:c.3317-155_3317-151del	XP_016876116.1:n.3317-155_3317-151del
NM_000053.4:c.3413-155_3413-151del MANE Select	NP_000044.2:n.3413-155_3413-151del
NM_001005918.3:c.2792-155_2792-151del	NP_001005918.1:n.2792-155_2792-151del
NM_001330579.2:c.3161-155_3161-151del	NP_001317508.1:n.3161-155_3161-151del
NM_001243182.2:c.3080-155_3080-151del	NP_001230111.1:n.3080-155_3080-151del
NM_001330578.2:c.3179-155_3179-151del	NP_001317507.1:n.3179-155_3179-151del