Canonical Allele Identifier: CA912974787

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52508964_52508965del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934828_51934829del , CM000675.2:g.51934828_51934829del	GRCh38
NC_000013.10:g.52508964_52508965del , CM000675.1:g.52508964_52508965del	GRCh37
NC_000013.9:g.51406965_51406966del	NCBI36
NG_008806.1:g.81668_81669del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1977_*1978del	ENSP00000489512.2:n.*1977_*1978del
ENST00000673864.2:c.*3071_*3072del	ENSP00000501045.2:n.*3071_*3072del
ENST00000674147.2:c.3706_3707del	ENSP00000500964.2:p.Ala1236CysfsTer5
ENST00000242839.10:c.4327_4328del MANE Select	ENSP00000242839.5:p.Ala1443CysfsTer5
ENST00000344297.9:c.3706_3707del	ENSP00000342559.5:p.Ala1236CysfsTer5
ENST00000400366.6:c.3994_3995del	ENSP00000383217.3:p.Ala1332CysfsTer5
ENST00000448424.7:c.4075_4076del	ENSP00000416738.3:p.Ala1359CysfsTer5
ENST00000673696.1:n.1650_1651del
ENST00000673772.1:c.4093_4094del	ENSP00000501168.1:p.Ala1365CysfsTer5
ENST00000673867.1:n.4466_4467del
ENST00000673923.1:n.1193_1194del
ENST00000674147.1:c.3262_3263del	ENSP00000500964.1:p.Ala1088CysfsTer5
ENST00000242839.8:c.4327_4328del	ENSP00000242839.4:p.Ala1443CysfsTer5
ENST00000344297.8:c.3706_3707del	ENSP00000342559.5:p.Ala1236CysfsTer5
ENST00000400366.5:c.3994_3995del	ENSP00000383217.3:p.Ala1332CysfsTer5
ENST00000400370.8:c.3037_3038del	ENSP00000383221.3:p.Ala1013CysfsTer5
ENST00000418097.7:c.4132_4133del	ENSP00000393343.2:p.Ala1378CysfsTer5
ENST00000448424.6:c.4093_4094del	ENSP00000416738.2:p.Ala1365CysfsTer5
ENST00000634296.1:c.2105_2106del
ENST00000634308.1:c.*1428_*1429del	ENSP00000489234.1:n.*1428_*1429del
ENST00000634620.1:n.5071_5072del
ENST00000634810.1:n.3672_3673del
ENST00000634844.1:c.4183_4184del	ENSP00000489398.1:p.Ala1395CysfsTer5
NM_000053.3:c.4327_4328del	NP_000044.2:p.Ala1443CysfsTer5
NM_001005918.2:c.3706_3707del	NP_001005918.1:p.Ala1236CysfsTer5
NM_001243182.1:c.3994_3995del	NP_001230111.1:p.Ala1332CysfsTer5
XM_005266423.2:c.4231_4232del	XP_005266480.1:p.Ala1411CysfsTer5
XM_005266424.3:c.4231_4232del	XP_005266481.1:p.Ala1411CysfsTer5
XM_005266427.2:c.4093_4094del	XP_005266484.1:p.Ala1365CysfsTer5
XM_005266428.1:c.4075_4076del	XP_005266485.1:p.Ala1359CysfsTer5
XM_005266430.3:c.4327_4328del	XP_005266487.1:p.Ala1443CysfsTer5
XM_005266431.2:c.4291_4292del	XP_005266488.1:p.Ala1431CysfsTer5
XM_005266432.2:c.3841_3842del	XP_005266489.1:p.Ala1281CysfsTer5
XM_006719837.2:c.4231_4232del	XP_006719900.1:p.Ala1411CysfsTer5
XM_006719838.1:c.2143_2144del	XP_006719901.1:p.Ala715CysfsTer5
XM_006719839.1:c.1960_1961del	XP_006719902.1:p.Ala654CysfsTer5
XM_011535117.1:c.4231_4232del	XP_011533419.1:p.Ala1411CysfsTer5
XM_011535118.1:c.4192_4193del	XP_011533420.1:p.Ala1398CysfsTer5
XM_011535119.1:c.4144_4145del	XP_011533421.1:p.Ala1382CysfsTer5
XM_011535120.1:c.3913_3914del	XP_011533422.1:p.Ala1305CysfsTer5
XM_011535121.1:c.3814_3815del	XP_011533423.1:p.Ala1272CysfsTer5
XM_011535122.1:c.2995_2996del	XP_011533424.1:p.Ala999CysfsTer5
XR_941601.1:n.4546_4547del
XR_941602.1:n.4546_4547del
XR_941603.1:n.4546_4547del
XR_941604.1:n.4546_4547del
NM_001330578.1:c.4093_4094del	NP_001317507.1:p.Ala1365CysfsTer5
NM_001330579.1:c.4075_4076del	NP_001317508.1:p.Ala1359CysfsTer5
XM_005266424.4:c.4231_4232del	XP_005266481.1:p.Ala1411CysfsTer5
XM_005266430.4:c.4327_4328del	XP_005266487.1:p.Ala1443CysfsTer5
XM_005266431.4:c.4291_4292del	XP_005266488.1:p.Ala1431CysfsTer5
XM_006719837.3:c.4231_4232del	XP_006719900.1:p.Ala1411CysfsTer5
XM_011535117.3:c.4231_4232del	XP_011533419.1:p.Ala1411CysfsTer5
XM_017020627.1:c.4231_4232del	XP_016876116.1:p.Ala1411CysfsTer5
NM_000053.4:c.4327_4328del MANE Select	NP_000044.2:p.Ala1443CysfsTer5
NM_001005918.3:c.3706_3707del	NP_001005918.1:p.Ala1236CysfsTer5
NM_001330579.2:c.4075_4076del	NP_001317508.1:p.Ala1359CysfsTer5
NM_001243182.2:c.3994_3995del	NP_001230111.1:p.Ala1332CysfsTer5
NM_001330578.2:c.4093_4094del	NP_001317507.1:p.Ala1365CysfsTer5