Canonical Allele Identifier: CA2091561611

Gene: ATP7B

Linked Data

• dbSNP Id: rs1951676965

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51968441_51968444del , CM000675.2:g.51968441_51968444del	GRCh38
NC_000013.10:g.52542577_52542580del , CM000675.1:g.52542577_52542580del	GRCh37
NC_000013.9:g.51440578_51440581del	NCBI36
NG_008806.1:g.48055_48058del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1707+4_1707+7del
ENST00000673864.2:c.*451+4_*451+7del
ENST00000674147.2:c.1707+4_1707+7del
ENST00000242839.10:c.1707+4_1707+7del
ENST00000344297.9:c.1707+4_1707+7del
ENST00000400366.6:c.1374+4_1374+7del
ENST00000448424.7:c.1707+4_1707+7del
ENST00000483772.2:n.463+4_463+7del
ENST00000673772.1:c.1707+4_1707+7del
ENST00000673864.1:c.901+4_901+7del
ENST00000674147.1:c.1263+4_1263+7del
ENST00000242839.8:c.1707+4_1707+7del
ENST00000344297.8:c.1707+4_1707+7del
ENST00000400366.5:c.1374+4_1374+7del
ENST00000400370.8:c.1285+5495_1285+5498del	ENSP00000383221.3:n.1285+5495_1285+5498del
ENST00000418097.7:c.1707+4_1707+7del
ENST00000448424.6:c.1707+4_1707+7del
ENST00000482841.6:n.1664+2052_1664+2055del
ENST00000483772.1:n.463+4_463+7del
ENST00000634308.1:c.1707+4_1707+7del
ENST00000634620.1:n.199+4_199+7del
ENST00000634844.1:c.1707+4_1707+7del
ENST00000635406.1:n.212-21962_212-21959del
NM_000053.3:c.1707+4_1707+7del
NM_001005918.2:c.1707+4_1707+7del
NM_001243182.1:c.1374+4_1374+7del
XM_005266423.2:c.1611+4_1611+7del
XM_005266424.3:c.1611+4_1611+7del
XM_005266427.2:c.1707+4_1707+7del
XM_005266428.1:c.1707+4_1707+7del
XM_005266430.3:c.1707+4_1707+7del
XM_005266431.2:c.1671+4_1671+7del
XM_005266432.2:c.1707+4_1707+7del
XM_006719837.2:c.1611+4_1611+7del
XM_011535117.1:c.1611+4_1611+7del
XM_011535118.1:c.1707+4_1707+7del
XM_011535119.1:c.1707+4_1707+7del
XM_011535120.1:c.1707+4_1707+7del
XM_011535121.1:c.1707+4_1707+7del
XM_011535122.1:c.375+4_375+7del
XR_941601.1:n.1926+4_1926+7del
XR_941602.1:n.1926+4_1926+7del
XR_941603.1:n.1926+4_1926+7del
XR_941604.1:n.1926+4_1926+7del
NM_001330578.1:c.1707+4_1707+7del
NM_001330579.1:c.1707+4_1707+7del
XM_005266424.4:c.1611+4_1611+7del
XM_005266430.4:c.1707+4_1707+7del
XM_005266431.4:c.1671+4_1671+7del
XM_006719837.3:c.1611+4_1611+7del
XM_011535117.3:c.1611+4_1611+7del
XM_017020627.1:c.1611+4_1611+7del
NM_000053.4:c.1707+4_1707+7del
NM_001005918.3:c.1707+4_1707+7del
NM_001330579.2:c.1707+4_1707+7del
NM_001243182.2:c.1374+4_1374+7del
NM_001330578.2:c.1707+4_1707+7del