Canonical Allele Identifier: CA2575420711

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679831
• ClinVar RCV Id: RCV003474236

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51964947_51964963del , CM000675.2:g.51964947_51964963del	GRCh38
NC_000013.10:g.52539083_52539099del , CM000675.1:g.52539083_52539099del	GRCh37
NC_000013.9:g.51437084_51437100del	NCBI36
NG_008806.1:g.51535_51551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1781_1797del	ENSP00000489512.2:p.Tyr594CysfsTer8
ENST00000673864.2:c.*525_*541del	ENSP00000501045.2:n.*525_*541del
ENST00000674147.2:c.1781_1797del	ENSP00000500964.2:p.Tyr594CysfsTer8
ENST00000242839.10:c.1781_1797del MANE Select	ENSP00000242839.5:p.Tyr594CysfsTer8
ENST00000344297.9:c.1781_1797del	ENSP00000342559.5:p.Tyr594CysfsTer8
ENST00000400366.6:c.1448_1464del	ENSP00000383217.3:p.Tyr483CysfsTer8
ENST00000448424.7:c.1781_1797del	ENSP00000416738.3:p.Tyr594CysfsTer8
ENST00000483772.2:n.537_553del
ENST00000673772.1:c.1781_1797del	ENSP00000501168.1:p.Tyr594CysfsTer8
ENST00000673864.1:c.975_991del	ENSP00000501045.1:n.975_991del
ENST00000674147.1:c.1337_1353del	ENSP00000500964.1:p.Tyr446CysfsTer8
ENST00000242839.8:c.1781_1797del	ENSP00000242839.4:p.Tyr594CysfsTer8
ENST00000344297.8:c.1781_1797del	ENSP00000342559.5:p.Tyr594CysfsTer8
ENST00000400366.5:c.1448_1464del	ENSP00000383217.3:p.Tyr483CysfsTer8
ENST00000400370.8:c.1285+8975_1285+8991del	ENSP00000383221.3:n.1285+8975_1285+8991de...
ENST00000418097.7:c.1781_1797del	ENSP00000393343.2:p.Tyr594CysfsTer8
ENST00000448424.6:c.1781_1797del	ENSP00000416738.2:p.Tyr594CysfsTer8
ENST00000482841.6:n.1664+5532_1664+5548del
ENST00000483772.1:n.537_553del
ENST00000634308.1:c.1781_1797del	ENSP00000489234.1:p.Tyr594CysfsTer8
ENST00000634620.1:n.273_289del
ENST00000634844.1:c.1781_1797del	ENSP00000489398.1:p.Tyr594CysfsTer8
ENST00000635406.1:n.212-18482_212-18466del
NM_000053.3:c.1781_1797del	NP_000044.2:p.Tyr594CysfsTer8
NM_001005918.2:c.1781_1797del	NP_001005918.1:p.Tyr594CysfsTer8
NM_001243182.1:c.1448_1464del	NP_001230111.1:p.Tyr483CysfsTer8
XM_005266423.2:c.1685_1701del	XP_005266480.1:p.Tyr562CysfsTer8
XM_005266424.3:c.1685_1701del	XP_005266481.1:p.Tyr562CysfsTer8
XM_005266427.2:c.1781_1797del	XP_005266484.1:p.Tyr594CysfsTer8
XM_005266428.1:c.1781_1797del	XP_005266485.1:p.Tyr594CysfsTer8
XM_005266430.3:c.1781_1797del	XP_005266487.1:p.Tyr594CysfsTer8
XM_005266431.2:c.1745_1761del	XP_005266488.1:p.Tyr582CysfsTer8
XM_005266432.2:c.1781_1797del	XP_005266489.1:p.Tyr594CysfsTer8
XM_006719837.2:c.1685_1701del	XP_006719900.1:p.Tyr562CysfsTer8
XM_011535117.1:c.1685_1701del	XP_011533419.1:p.Tyr562CysfsTer8
XM_011535118.1:c.1781_1797del	XP_011533420.1:p.Tyr594CysfsTer8
XM_011535119.1:c.1781_1797del	XP_011533421.1:p.Tyr594CysfsTer8
XM_011535120.1:c.1707+3484_1707+3500del	XP_011533422.1:n.1707+3484_1707+3500del
XM_011535121.1:c.1781_1797del	XP_011533423.1:p.Tyr594CysfsTer8
XM_011535122.1:c.449_465del	XP_011533424.1:p.Tyr150CysfsTer8
XR_941601.1:n.2000_2016del
XR_941602.1:n.2000_2016del
XR_941603.1:n.2000_2016del
XR_941604.1:n.2000_2016del
NM_001330578.1:c.1781_1797del	NP_001317507.1:p.Tyr594CysfsTer8
NM_001330579.1:c.1781_1797del	NP_001317508.1:p.Tyr594CysfsTer8
XM_005266424.4:c.1685_1701del	XP_005266481.1:p.Tyr562CysfsTer8
XM_005266430.4:c.1781_1797del	XP_005266487.1:p.Tyr594CysfsTer8
XM_005266431.4:c.1745_1761del	XP_005266488.1:p.Tyr582CysfsTer8
XM_006719837.3:c.1685_1701del	XP_006719900.1:p.Tyr562CysfsTer8
XM_011535117.3:c.1685_1701del	XP_011533419.1:p.Tyr562CysfsTer8
XM_017020627.1:c.1685_1701del	XP_016876116.1:p.Tyr562CysfsTer8
NM_000053.4:c.1781_1797del MANE Select	NP_000044.2:p.Tyr594CysfsTer8
NM_001005918.3:c.1781_1797del	NP_001005918.1:p.Tyr594CysfsTer8
NM_001330579.2:c.1781_1797del	NP_001317508.1:p.Tyr594CysfsTer8
NM_001243182.2:c.1448_1464del	NP_001230111.1:p.Tyr483CysfsTer8
NM_001330578.2:c.1781_1797del	NP_001317507.1:p.Tyr594CysfsTer8