Canonical Allele Identifier: CA658823716

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 552359
• ClinVar RCV Id: RCV000667602
• dbSNP Id: rs1555294199
• MyVariant Identifiers: chr13:g.51968428_51968451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51968430_51968453del , CM000675.2:g.51968430_51968453del	GRCh38
NC_000013.10:g.52542566_52542589del , CM000675.1:g.52542566_52542589del	GRCh37
NC_000013.9:g.51440567_51440590del	NCBI36
NG_008806.1:g.48044_48067del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1700_1707+16del
ENST00000673864.2:c.*444_*451+16del
ENST00000674147.2:c.1700_1707+16del
ENST00000242839.10:c.1700_1707+16del
ENST00000344297.9:c.1700_1707+16del
ENST00000400366.6:c.1367_1374+16del
ENST00000448424.7:c.1700_1707+16del
ENST00000483772.2:n.456_463+16del
ENST00000673772.1:c.1700_1707+16del
ENST00000673864.1:c.894_901+16del
ENST00000674147.1:c.1256_1263+16del
ENST00000242839.8:c.1700_1707+16del
ENST00000344297.8:c.1700_1707+16del
ENST00000400366.5:c.1367_1374+16del
ENST00000400370.8:c.1285+5484_1285+5507del	ENSP00000383221.3:n.1285+5484_1285+5507del
ENST00000418097.7:c.1700_1707+16del
ENST00000448424.6:c.1700_1707+16del
ENST00000482841.6:n.1664+2041_1664+2064del
ENST00000483772.1:n.456_463+16del
ENST00000634308.1:c.1700_1707+16del
ENST00000634620.1:n.192_199+16del
ENST00000634844.1:c.1700_1707+16del
ENST00000635406.1:n.212-21973_212-21950del
NM_000053.3:c.1700_1707+16del
NM_001005918.2:c.1700_1707+16del
NM_001243182.1:c.1367_1374+16del
XM_005266423.2:c.1604_1611+16del
XM_005266424.3:c.1604_1611+16del
XM_005266427.2:c.1700_1707+16del
XM_005266428.1:c.1700_1707+16del
XM_005266430.3:c.1700_1707+16del
XM_005266431.2:c.1664_1671+16del
XM_005266432.2:c.1700_1707+16del
XM_006719837.2:c.1604_1611+16del
XM_011535117.1:c.1604_1611+16del
XM_011535118.1:c.1700_1707+16del
XM_011535119.1:c.1700_1707+16del
XM_011535120.1:c.1700_1707+16del
XM_011535121.1:c.1700_1707+16del
XM_011535122.1:c.368_375+16del
XR_941601.1:n.1919_1926+16del
XR_941602.1:n.1919_1926+16del
XR_941603.1:n.1919_1926+16del
XR_941604.1:n.1919_1926+16del
NM_001330578.1:c.1700_1707+16del
NM_001330579.1:c.1700_1707+16del
XM_005266424.4:c.1604_1611+16del
XM_005266430.4:c.1700_1707+16del
XM_005266431.4:c.1664_1671+16del
XM_006719837.3:c.1604_1611+16del
XM_011535117.3:c.1604_1611+16del
XM_017020627.1:c.1604_1611+16del
NM_000053.4:c.1700_1707+16del
NM_001005918.3:c.1700_1707+16del
NM_001330579.2:c.1700_1707+16del
NM_001243182.2:c.1367_1374+16del
NM_001330578.2:c.1700_1707+16del