Canonical Allele Identifier: CA912974790

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511426_52511427del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937290_51937291del , CM000675.2:g.51937290_51937291del	GRCh38
NC_000013.10:g.52511426_52511427del , CM000675.1:g.52511426_52511427del	GRCh37
NC_000013.9:g.51409427_51409428del	NCBI36
NG_008806.1:g.79205_79206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1657_*1658del	ENSP00000489512.2:n.*1657_*1658del
ENST00000673864.2:c.*2751_*2752del	ENSP00000501045.2:n.*2751_*2752del
ENST00000674147.2:c.3386_3387del	ENSP00000500964.2:p.Ile1129ThrfsTer?
ENST00000242839.10:c.4007_4008del MANE Select	ENSP00000242839.5:p.Ile1336ThrfsTer?
ENST00000344297.9:c.3386_3387del	ENSP00000342559.5:p.Ile1129ThrfsTer?
ENST00000400366.6:c.3674_3675del	ENSP00000383217.3:p.Ile1225ThrfsTer?
ENST00000448424.7:c.3755_3756del	ENSP00000416738.3:p.Ile1252ThrfsTer?
ENST00000673696.1:n.1330_1331del
ENST00000673772.1:c.3773_3774del	ENSP00000501168.1:p.Ile1258ThrfsTer?
ENST00000673867.1:n.4146_4147del
ENST00000673923.1:n.873_874del
ENST00000674147.1:c.2942_2943del	ENSP00000500964.1:p.Ile981ThrfsTer?
ENST00000242839.8:c.4007_4008del	ENSP00000242839.4:p.Ile1336ThrfsTer?
ENST00000344297.8:c.3386_3387del	ENSP00000342559.5:p.Ile1129ThrfsTer?
ENST00000400366.5:c.3674_3675del	ENSP00000383217.3:p.Ile1225ThrfsTer?
ENST00000400370.8:c.2717_2718del	ENSP00000383221.3:p.Ile906ThrfsTer?
ENST00000418097.7:c.3812_3813del	ENSP00000393343.2:p.Ile1271ThrfsTer?
ENST00000448424.6:c.3773_3774del	ENSP00000416738.2:p.Ile1258ThrfsTer?
ENST00000634296.1:c.1785_1786del
ENST00000634308.1:c.*1108_*1109del	ENSP00000489234.1:n.*1108_*1109del
ENST00000634620.1:n.4751_4752del
ENST00000634810.1:n.3352_3353del
ENST00000634844.1:c.3863_3864del	ENSP00000489398.1:p.Ile1288ThrfsTer?
NM_000053.3:c.4007_4008del	NP_000044.2:p.Ile1336ThrfsTer?
NM_001005918.2:c.3386_3387del	NP_001005918.1:p.Ile1129ThrfsTer?
NM_001243182.1:c.3674_3675del	NP_001230111.1:p.Ile1225ThrfsTer?
XM_005266423.2:c.3911_3912del	XP_005266480.1:p.Ile1304ThrfsTer?
XM_005266424.3:c.3911_3912del	XP_005266481.1:p.Ile1304ThrfsTer?
XM_005266427.2:c.3773_3774del	XP_005266484.1:p.Ile1258ThrfsTer?
XM_005266428.1:c.3755_3756del	XP_005266485.1:p.Ile1252ThrfsTer?
XM_005266430.3:c.4007_4008del	XP_005266487.1:p.Ile1336ThrfsTer?
XM_005266431.2:c.3971_3972del	XP_005266488.1:p.Ile1324ThrfsTer?
XM_005266432.2:c.3521_3522del	XP_005266489.1:p.Ile1174ThrfsTer?
XM_006719837.2:c.3911_3912del	XP_006719900.1:p.Ile1304ThrfsTer?
XM_006719838.1:c.1823_1824del	XP_006719901.1:p.Ile608ThrfsTer?
XM_006719839.1:c.1640_1641del	XP_006719902.1:p.Ile547ThrfsTer?
XM_011535117.1:c.3911_3912del	XP_011533419.1:p.Ile1304ThrfsTer?
XM_011535118.1:c.3872_3873del	XP_011533420.1:p.Ile1291ThrfsTer?
XM_011535119.1:c.3824_3825del	XP_011533421.1:p.Ile1275ThrfsTer?
XM_011535120.1:c.3593_3594del	XP_011533422.1:p.Ile1198ThrfsTer?
XM_011535121.1:c.3494_3495del	XP_011533423.1:p.Ile1165ThrfsTer?
XM_011535122.1:c.2675_2676del	XP_011533424.1:p.Ile892ThrfsTer?
XR_941601.1:n.4226_4227del
XR_941602.1:n.4226_4227del
XR_941603.1:n.4226_4227del
XR_941604.1:n.4226_4227del
NM_001330578.1:c.3773_3774del	NP_001317507.1:p.Ile1258ThrfsTer?
NM_001330579.1:c.3755_3756del	NP_001317508.1:p.Ile1252ThrfsTer?
XM_005266424.4:c.3911_3912del	XP_005266481.1:p.Ile1304ThrfsTer?
XM_005266430.4:c.4007_4008del	XP_005266487.1:p.Ile1336ThrfsTer?
XM_005266431.4:c.3971_3972del	XP_005266488.1:p.Ile1324ThrfsTer?
XM_006719837.3:c.3911_3912del	XP_006719900.1:p.Ile1304ThrfsTer?
XM_011535117.3:c.3911_3912del	XP_011533419.1:p.Ile1304ThrfsTer?
XM_017020627.1:c.3911_3912del	XP_016876116.1:p.Ile1304ThrfsTer?
NM_000053.4:c.4007_4008del MANE Select	NP_000044.2:p.Ile1336ThrfsTer?
NM_001005918.3:c.3386_3387del	NP_001005918.1:p.Ile1129ThrfsTer?
NM_001330579.2:c.3755_3756del	NP_001317508.1:p.Ile1252ThrfsTer?
NM_001243182.2:c.3674_3675del	NP_001230111.1:p.Ile1225ThrfsTer?
NM_001330578.2:c.3773_3774del	NP_001317507.1:p.Ile1258ThrfsTer?