Canonical Allele Identifier: CA891844418
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 573285
ClinVar RCV Id: RCV000694922
dbSNP Id: rs1566560096

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51965024_51965060del , CM000675.2:g.51965024_51965060del GRCh38
NC_000013.10:g.52539160_52539196del , CM000675.1:g.52539160_52539196del GRCh37
NC_000013.9:g.51437161_51437197del NCBI36
NG_008806.1:g.51437_51473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.1708-25_1719del
ENST00000673864.2:c.*452-25_*463del
ENST00000674147.2:c.1708-25_1719del
ENST00000242839.10:c.1708-25_1719del
ENST00000344297.9:c.1708-25_1719del
ENST00000400366.6:c.1375-25_1386del
ENST00000448424.7:c.1708-25_1719del
ENST00000483772.2:n.464-25_475del
ENST00000673772.1:c.1708-25_1719del
ENST00000673864.1:c.902-25_913del
ENST00000674147.1:c.1264-25_1275del
ENST00000242839.8:c.1708-25_1719del
ENST00000344297.8:c.1708-25_1719del
ENST00000400366.5:c.1375-25_1386del
ENST00000400370.8:c.1285+8877_1285+8913del ENSP00000383221.3:n.1285+8877_1285+8913del
ENST00000418097.7:c.1708-25_1719del
ENST00000448424.6:c.1708-25_1719del
ENST00000482841.6:n.1664+5434_1664+5470del
ENST00000483772.1:n.464-25_475del
ENST00000634308.1:c.1708-25_1719del
ENST00000634620.1:n.200-25_211del
ENST00000634844.1:c.1708-25_1719del
ENST00000635406.1:n.212-18580_212-18544del
NM_000053.3:c.1708-25_1719del
NM_001005918.2:c.1708-25_1719del
NM_001243182.1:c.1375-25_1386del
XM_005266423.2:c.1612-25_1623del
XM_005266424.3:c.1612-25_1623del
XM_005266427.2:c.1708-25_1719del
XM_005266428.1:c.1708-25_1719del
XM_005266430.3:c.1708-25_1719del
XM_005266431.2:c.1672-25_1683del
XM_005266432.2:c.1708-25_1719del
XM_006719837.2:c.1612-25_1623del
XM_011535117.1:c.1612-25_1623del
XM_011535118.1:c.1708-25_1719del
XM_011535119.1:c.1708-25_1719del
XM_011535120.1:c.1707+3386_1707+3422del XP_011533422.1:n.1707+3386_1707+3422del
XM_011535121.1:c.1708-25_1719del
XM_011535122.1:c.376-25_387del
XR_941601.1:n.1927-25_1938del
XR_941602.1:n.1927-25_1938del
XR_941603.1:n.1927-25_1938del
XR_941604.1:n.1927-25_1938del
NM_001330578.1:c.1708-25_1719del
NM_001330579.1:c.1708-25_1719del
XM_005266424.4:c.1612-25_1623del
XM_005266430.4:c.1708-25_1719del
XM_005266431.4:c.1672-25_1683del
XM_006719837.3:c.1612-25_1623del
XM_011535117.3:c.1612-25_1623del
XM_017020627.1:c.1612-25_1623del
NM_000053.4:c.1708-25_1719del
NM_001005918.3:c.1708-25_1719del
NM_001330579.2:c.1708-25_1719del
NM_001243182.2:c.1375-25_1386del
NM_001330578.2:c.1708-25_1719del