Canonical Allele Identifier: CA2623117988

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51949514-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949516del , CM000675.2:g.51949516del	GRCh38
NC_000013.10:g.52523652del , CM000675.1:g.52523652del	GRCh37
NC_000013.9:g.51421653del	NCBI36
NG_008806.1:g.66980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*698+147del	ENSP00000489512.2:n.*698+147del
ENST00000673864.2:c.*1609+147del	ENSP00000501045.2:n.*1609+147del
ENST00000674147.2:c.2244+492del	ENSP00000500964.2:n.2244+492del
ENST00000242839.10:c.2865+147del MANE Select	ENSP00000242839.5:n.2865+147del
ENST00000344297.9:c.2244+492del	ENSP00000342559.5:n.2244+492del
ENST00000400366.6:c.2532+147del	ENSP00000383217.3:n.2532+147del
ENST00000448424.7:c.2613+147del	ENSP00000416738.3:n.2613+147del
ENST00000673772.1:c.2631+147del	ENSP00000501168.1:n.2631+147del
ENST00000674126.1:n.192del
ENST00000674147.1:c.1800+492del	ENSP00000500964.1:n.1800+492del
ENST00000242839.8:c.2865+147del	ENSP00000242839.4:n.2865+147del
ENST00000344297.8:c.2244+492del	ENSP00000342559.5:n.2244+492del
ENST00000400366.5:c.2532+147del	ENSP00000383217.3:n.2532+147del
ENST00000400370.8:c.1575+147del	ENSP00000383221.3:n.1575+147del
ENST00000418097.7:c.2865+147del	ENSP00000393343.2:n.2865+147del
ENST00000448424.6:c.2631+147del	ENSP00000416738.2:n.2631+147del
ENST00000634296.1:c.826+147del
ENST00000634308.1:c.2631+147del	ENSP00000489234.1:n.2631+147del
ENST00000634620.1:n.3609+201del
ENST00000634810.1:n.2210+147del
ENST00000634844.1:c.2721+147del	ENSP00000489398.1:n.2721+147del
ENST00000635406.1:n.212-3037del
NM_000053.3:c.2865+147del	NP_000044.2:n.2865+147del
NM_001005918.2:c.2244+492del	NP_001005918.1:n.2244+492del
NM_001243182.1:c.2532+147del	NP_001230111.1:n.2532+147del
XM_005266423.2:c.2769+147del	XP_005266480.1:n.2769+147del
XM_005266424.3:c.2769+147del	XP_005266481.1:n.2769+147del
XM_005266427.2:c.2631+147del	XP_005266484.1:n.2631+147del
XM_005266428.1:c.2613+147del	XP_005266485.1:n.2613+147del
XM_005266430.3:c.2865+147del	XP_005266487.1:n.2865+147del
XM_005266431.2:c.2829+147del	XP_005266488.1:n.2829+147del
XM_005266432.2:c.2379+147del	XP_005266489.1:n.2379+147del
XM_006719837.2:c.2769+147del	XP_006719900.1:n.2769+147del
XM_006719838.1:c.681+147del	XP_006719901.1:n.681+147del
XM_006719839.1:c.681+147del	XP_006719902.1:n.681+147del
XM_011535117.1:c.2769+147del	XP_011533419.1:n.2769+147del
XM_011535118.1:c.2730+492del	XP_011533420.1:n.2730+492del
XM_011535119.1:c.2865+147del	XP_011533421.1:n.2865+147del
XM_011535120.1:c.2451+147del	XP_011533422.1:n.2451+147del
XM_011535121.1:c.2730+492del	XP_011533423.1:n.2730+492del
XM_011535122.1:c.1533+147del	XP_011533424.1:n.1533+147del
XR_941601.1:n.3084+147del
XR_941602.1:n.3084+147del
XR_941603.1:n.3084+147del
XR_941604.1:n.3084+147del
NM_001330578.1:c.2631+147del	NP_001317507.1:n.2631+147del
NM_001330579.1:c.2613+147del	NP_001317508.1:n.2613+147del
XM_005266424.4:c.2769+147del	XP_005266481.1:n.2769+147del
XM_005266430.4:c.2865+147del	XP_005266487.1:n.2865+147del
XM_005266431.4:c.2829+147del	XP_005266488.1:n.2829+147del
XM_006719837.3:c.2769+147del	XP_006719900.1:n.2769+147del
XM_011535117.3:c.2769+147del	XP_011533419.1:n.2769+147del
XM_017020627.1:c.2769+147del	XP_016876116.1:n.2769+147del
NM_000053.4:c.2865+147del MANE Select	NP_000044.2:n.2865+147del
NM_001005918.3:c.2244+492del	NP_001005918.1:n.2244+492del
NM_001330579.2:c.2613+147del	NP_001317508.1:n.2613+147del
NM_001243182.2:c.2532+147del	NP_001230111.1:n.2532+147del
NM_001330578.2:c.2631+147del	NP_001317507.1:n.2631+147del