Canonical Allele Identifier: CA2623118805

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679836
• ClinVar RCV Id: RCV003474241
• gnomAD v4: 13-51970516-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51970518_51970519del , CM000675.2:g.51970518_51970519del	GRCh38
NC_000013.10:g.52544654_52544655del , CM000675.1:g.52544654_52544655del	GRCh37
NC_000013.9:g.51442655_51442656del	NCBI36
NG_008806.1:g.45977_45978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1517_1518del	ENSP00000489512.2:p.Ile506ArgfsTer27
ENST00000673864.2:c.*261_*262del	ENSP00000501045.2:n.*261_*262del
ENST00000674147.2:c.1517_1518del	ENSP00000500964.2:p.Ile506ArgfsTer27
ENST00000242839.10:c.1517_1518del MANE Select	ENSP00000242839.5:p.Ile506ArgfsTer27
ENST00000344297.9:c.1517_1518del	ENSP00000342559.5:p.Ile506ArgfsTer27
ENST00000400366.6:c.1184_1185del	ENSP00000383217.3:p.Ile395ArgfsTer27
ENST00000448424.7:c.1517_1518del	ENSP00000416738.3:p.Ile506ArgfsTer27
ENST00000483772.2:n.273_274del
ENST00000673772.1:c.1517_1518del	ENSP00000501168.1:p.Ile506ArgfsTer27
ENST00000673789.1:n.473_474del
ENST00000673864.1:c.711_712del	ENSP00000501045.1:n.711_712del
ENST00000674078.1:n.1618_1619del
ENST00000674147.1:c.1073_1074del	ENSP00000500964.1:p.Ile358ArgfsTer27
ENST00000242839.8:c.1517_1518del	ENSP00000242839.4:p.Ile506ArgfsTer27
ENST00000344297.8:c.1517_1518del	ENSP00000342559.5:p.Ile506ArgfsTer27
ENST00000400366.5:c.1184_1185del	ENSP00000383217.3:p.Ile395ArgfsTer27
ENST00000400370.8:c.1285+3417_1285+3418del	ENSP00000383221.3:n.1285+3417_1285+3418del
ENST00000418097.7:c.1517_1518del	ENSP00000393343.2:p.Ile506ArgfsTer27
ENST00000448424.6:c.1517_1518del	ENSP00000416738.2:p.Ile506ArgfsTer27
ENST00000482841.6:n.1638_1639del
ENST00000483772.1:n.273_274del
ENST00000634308.1:c.1517_1518del	ENSP00000489234.1:p.Ile506ArgfsTer27
ENST00000634620.1:n.9_10del
ENST00000634844.1:c.1517_1518del	ENSP00000489398.1:p.Ile506ArgfsTer27
ENST00000635406.1:n.212-24040_212-24039del
NM_000053.3:c.1517_1518del	NP_000044.2:p.Ile506ArgfsTer27
NM_001005918.2:c.1517_1518del	NP_001005918.1:p.Ile506ArgfsTer27
NM_001243182.1:c.1184_1185del	NP_001230111.1:p.Ile395ArgfsTer27
XM_005266423.2:c.1421_1422del	XP_005266480.1:p.Ile474ArgfsTer27
XM_005266424.3:c.1421_1422del	XP_005266481.1:p.Ile474ArgfsTer27
XM_005266427.2:c.1517_1518del	XP_005266484.1:p.Ile506ArgfsTer27
XM_005266428.1:c.1517_1518del	XP_005266485.1:p.Ile506ArgfsTer27
XM_005266430.3:c.1517_1518del	XP_005266487.1:p.Ile506ArgfsTer27
XM_005266431.2:c.1481_1482del	XP_005266488.1:p.Ile494ArgfsTer27
XM_005266432.2:c.1517_1518del	XP_005266489.1:p.Ile506ArgfsTer27
XM_006719837.2:c.1421_1422del	XP_006719900.1:p.Ile474ArgfsTer27
XM_011535117.1:c.1421_1422del	XP_011533419.1:p.Ile474ArgfsTer27
XM_011535118.1:c.1517_1518del	XP_011533420.1:p.Ile506ArgfsTer27
XM_011535119.1:c.1517_1518del	XP_011533421.1:p.Ile506ArgfsTer27
XM_011535120.1:c.1517_1518del	XP_011533422.1:p.Ile506ArgfsTer27
XM_011535121.1:c.1517_1518del	XP_011533423.1:p.Ile506ArgfsTer27
XM_011535122.1:c.185_186del	XP_011533424.1:p.Ile62ArgfsTer27
XR_941601.1:n.1736_1737del
XR_941602.1:n.1736_1737del
XR_941603.1:n.1736_1737del
XR_941604.1:n.1736_1737del
NM_001330578.1:c.1517_1518del	NP_001317507.1:p.Ile506ArgfsTer27
NM_001330579.1:c.1517_1518del	NP_001317508.1:p.Ile506ArgfsTer27
XM_005266424.4:c.1421_1422del	XP_005266481.1:p.Ile474ArgfsTer27
XM_005266430.4:c.1517_1518del	XP_005266487.1:p.Ile506ArgfsTer27
XM_005266431.4:c.1481_1482del	XP_005266488.1:p.Ile494ArgfsTer27
XM_006719837.3:c.1421_1422del	XP_006719900.1:p.Ile474ArgfsTer27
XM_011535117.3:c.1421_1422del	XP_011533419.1:p.Ile474ArgfsTer27
XM_017020627.1:c.1421_1422del	XP_016876116.1:p.Ile474ArgfsTer27
NM_000053.4:c.1517_1518del MANE Select	NP_000044.2:p.Ile506ArgfsTer27
NM_001005918.3:c.1517_1518del	NP_001005918.1:p.Ile506ArgfsTer27
NM_001330579.2:c.1517_1518del	NP_001317508.1:p.Ile506ArgfsTer27
NM_001243182.2:c.1184_1185del	NP_001230111.1:p.Ile395ArgfsTer27
NM_001330578.2:c.1517_1518del	NP_001317507.1:p.Ile506ArgfsTer27