Canonical Allele Identifier: CA2091541955

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2137523
• ClinVar RCV Id: RCV003062598 ; RCV003481371
• dbSNP Id: rs1957901268
• gnomAD v4: 13-51950087-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950090_51950091del , CM000675.2:g.51950090_51950091del	GRCh38
NC_000013.10:g.52524226_52524227del , CM000675.1:g.52524226_52524227del	GRCh37
NC_000013.9:g.51422227_51422228del	NCBI36
NG_008806.1:g.66406_66407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*481_*482del	ENSP00000489512.2:n.*481_*482del
ENST00000673864.2:c.*1392_*1393del	ENSP00000501045.2:n.*1392_*1393del
ENST00000674147.2:c.2162_2163del	ENSP00000500964.2:p.Val721AlafsTer3
ENST00000242839.10:c.2648_2649del MANE Select	ENSP00000242839.5:p.Val883AlafsTer3
ENST00000344297.9:c.2162_2163del	ENSP00000342559.5:p.Val721AlafsTer3
ENST00000400366.6:c.2315_2316del	ENSP00000383217.3:p.Val772AlafsTer3
ENST00000448424.7:c.2396_2397del	ENSP00000416738.3:p.Val799AlafsTer3
ENST00000673772.1:c.2414_2415del	ENSP00000501168.1:p.Val805AlafsTer3
ENST00000674147.1:c.1718_1719del	ENSP00000500964.1:p.Val573AlafsTer3
ENST00000242839.8:c.2648_2649del	ENSP00000242839.4:p.Val883AlafsTer3
ENST00000344297.8:c.2162_2163del	ENSP00000342559.5:p.Val721AlafsTer3
ENST00000400366.5:c.2315_2316del	ENSP00000383217.3:p.Val772AlafsTer3
ENST00000400370.8:c.1358_1359del	ENSP00000383221.3:p.Val453AlafsTer3
ENST00000418097.7:c.2648_2649del	ENSP00000393343.2:p.Val883AlafsTer3
ENST00000448424.6:c.2414_2415del	ENSP00000416738.2:p.Val805AlafsTer3
ENST00000634296.1:c.609_610del
ENST00000634308.1:c.2414_2415del	ENSP00000489234.1:p.Val805AlafsTer3
ENST00000634620.1:n.3446_3447del
ENST00000634810.1:n.1993_1994del
ENST00000634844.1:c.2504_2505del	ENSP00000489398.1:p.Val835AlafsTer3
ENST00000635406.1:n.212-3611_212-3610del
NM_000053.3:c.2648_2649del	NP_000044.2:p.Val883AlafsTer3
NM_001005918.2:c.2162_2163del	NP_001005918.1:p.Val721AlafsTer3
NM_001243182.1:c.2315_2316del	NP_001230111.1:p.Val772AlafsTer3
XM_005266423.2:c.2552_2553del	XP_005266480.1:p.Val851AlafsTer3
XM_005266424.3:c.2552_2553del	XP_005266481.1:p.Val851AlafsTer3
XM_005266427.2:c.2414_2415del	XP_005266484.1:p.Val805AlafsTer3
XM_005266428.1:c.2396_2397del	XP_005266485.1:p.Val799AlafsTer3
XM_005266430.3:c.2648_2649del	XP_005266487.1:p.Val883AlafsTer3
XM_005266431.2:c.2612_2613del	XP_005266488.1:p.Val871AlafsTer3
XM_005266432.2:c.2162_2163del	XP_005266489.1:p.Val721AlafsTer3
XM_006719837.2:c.2552_2553del	XP_006719900.1:p.Val851AlafsTer3
XM_006719838.1:c.464_465del	XP_006719901.1:p.Val155AlafsTer3
XM_006719839.1:c.464_465del	XP_006719902.1:p.Val155AlafsTer3
XM_011535117.1:c.2552_2553del	XP_011533419.1:p.Val851AlafsTer3
XM_011535118.1:c.2648_2649del	XP_011533420.1:p.Val883AlafsTer3
XM_011535119.1:c.2648_2649del	XP_011533421.1:p.Val883AlafsTer3
XM_011535120.1:c.2234_2235del	XP_011533422.1:p.Val745AlafsTer3
XM_011535121.1:c.2648_2649del	XP_011533423.1:p.Val883AlafsTer3
XM_011535122.1:c.1316_1317del	XP_011533424.1:p.Val439AlafsTer3
XR_941601.1:n.2867_2868del
XR_941602.1:n.2867_2868del
XR_941603.1:n.2867_2868del
XR_941604.1:n.2867_2868del
NM_001330578.1:c.2414_2415del	NP_001317507.1:p.Val805AlafsTer3
NM_001330579.1:c.2396_2397del	NP_001317508.1:p.Val799AlafsTer3
XM_005266424.4:c.2552_2553del	XP_005266481.1:p.Val851AlafsTer3
XM_005266430.4:c.2648_2649del	XP_005266487.1:p.Val883AlafsTer3
XM_005266431.4:c.2612_2613del	XP_005266488.1:p.Val871AlafsTer3
XM_006719837.3:c.2552_2553del	XP_006719900.1:p.Val851AlafsTer3
XM_011535117.3:c.2552_2553del	XP_011533419.1:p.Val851AlafsTer3
XM_017020627.1:c.2552_2553del	XP_016876116.1:p.Val851AlafsTer3
NM_000053.4:c.2648_2649del MANE Select	NP_000044.2:p.Val883AlafsTer3
NM_001005918.3:c.2162_2163del	NP_001005918.1:p.Val721AlafsTer3
NM_001330579.2:c.2396_2397del	NP_001317508.1:p.Val799AlafsTer3
NM_001243182.2:c.2315_2316del	NP_001230111.1:p.Val772AlafsTer3
NM_001330578.2:c.2414_2415del	NP_001317507.1:p.Val805AlafsTer3