Canonical Allele Identifier: CA916083356

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 861953
• ClinVar RCV Id: RCV001068581
• dbSNP Id: rs1957518966

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944274_51944843del , CM000675.2:g.51944274_51944843del	GRCh38
NC_000013.10:g.52518410_52518979del , CM000675.1:g.52518410_52518979del	GRCh37
NC_000013.9:g.51416411_51416980del	NCBI36
NG_008806.1:g.71655_72224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*893+1444_*894-1717del	ENSP00000489512.2:n.*893+1444_*894-1717del
ENST00000673864.2:c.*1805-549_*1825del
ENST00000674147.2:c.2440-549_2460del
ENST00000242839.10:c.3061-549_3081del
ENST00000344297.9:c.2440-549_2460del
ENST00000400366.6:c.2728-549_2748del
ENST00000448424.7:c.2809-549_2829del
ENST00000673772.1:c.2827-549_2847del
ENST00000673867.1:n.2651_3220del
ENST00000674126.1:n.3424-549_3444del
ENST00000674147.1:c.1996-549_2016del
ENST00000242839.8:c.3061-549_3081del
ENST00000344297.8:c.2440-549_2460del
ENST00000400366.5:c.2728-549_2748del
ENST00000400370.8:c.1771-549_1791del
ENST00000418097.7:c.2866-549_2886del
ENST00000448424.6:c.2827-549_2847del
ENST00000466629.1:n.281-549_301del
ENST00000634296.1:c.1021+1444_1022-1717del
ENST00000634308.1:c.*162-549_*182del
ENST00000634620.1:n.3805-549_3825del
ENST00000634810.1:n.2406-549_2426del
ENST00000634844.1:c.2917-549_2937del
ENST00000635406.1:n.407-549_427del
NM_000053.3:c.3061-549_3081del
NM_001005918.2:c.2440-549_2460del
NM_001243182.1:c.2728-549_2748del
XM_005266423.2:c.2965-549_2985del
XM_005266424.3:c.2965-549_2985del
XM_005266427.2:c.2827-549_2847del
XM_005266428.1:c.2809-549_2829del
XM_005266430.3:c.3061-549_3081del
XM_005266431.2:c.3025-549_3045del
XM_005266432.2:c.2575-549_2595del
XM_006719837.2:c.2965-549_2985del
XM_006719838.1:c.877-549_897del
XM_006719839.1:c.876+1444_877-1717del	XP_006719902.1:n.876+1444_877-1717del
XM_011535117.1:c.2965-549_2985del
XM_011535118.1:c.2926-549_2946del
XM_011535119.1:c.3060+1444_3061-1717del	XP_011533421.1:n.3060+1444_3061-1717del
XM_011535120.1:c.2647-549_2667del
XM_011535121.1:c.2731-2286_2731-1717del	XP_011533423.1:n.2731-2286_2731-1717del
XM_011535122.1:c.1729-549_1749del
XR_941601.1:n.3280-549_3300del
XR_941602.1:n.3280-549_3300del
XR_941603.1:n.3280-549_3300del
XR_941604.1:n.3280-549_3300del
NM_001330578.1:c.2827-549_2847del
NM_001330579.1:c.2809-549_2829del
XM_005266424.4:c.2965-549_2985del
XM_005266430.4:c.3061-549_3081del
XM_005266431.4:c.3025-549_3045del
XM_006719837.3:c.2965-549_2985del
XM_011535117.3:c.2965-549_2985del
XM_017020627.1:c.2965-549_2985del
NM_000053.4:c.3061-549_3081del
NM_001005918.3:c.2440-549_2460del
NM_001330579.2:c.2809-549_2829del
NM_001243182.2:c.2728-549_2748del
NM_001330578.2:c.2827-549_2847del