Canonical Allele Identifier: CA2091564247

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1068802
• ClinVar RCV Id: RCV001380472
• dbSNP Id: rs1957519682
• gnomAD v4: 13-51944279-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944282_51944283del , CM000675.2:g.51944282_51944283del	GRCh38
NC_000013.10:g.52518418_52518419del , CM000675.1:g.52518418_52518419del	GRCh37
NC_000013.9:g.51416419_51416420del	NCBI36
NG_008806.1:g.72214_72215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1727_*894-1726del	ENSP00000489512.2:n.*894-1727_*894-1726del
ENST00000673864.2:c.*1815_*1816del	ENSP00000501045.2:n.*1815_*1816del
ENST00000674147.2:c.2450_2451del	ENSP00000500964.2:p.Val817AspfsTer3
ENST00000242839.10:c.3071_3072del MANE Select	ENSP00000242839.5:p.Val1024AspfsTer3
ENST00000344297.9:c.2450_2451del	ENSP00000342559.5:p.Val817AspfsTer3
ENST00000400366.6:c.2738_2739del	ENSP00000383217.3:p.Val913AspfsTer3
ENST00000448424.7:c.2819_2820del	ENSP00000416738.3:p.Val940AspfsTer3
ENST00000673772.1:c.2837_2838del	ENSP00000501168.1:p.Val946AspfsTer3
ENST00000673867.1:n.3210_3211del
ENST00000674126.1:n.3434_3435del
ENST00000674147.1:c.2006_2007del	ENSP00000500964.1:p.Val669AspfsTer3
ENST00000242839.8:c.3071_3072del	ENSP00000242839.4:p.Val1024AspfsTer3
ENST00000344297.8:c.2450_2451del	ENSP00000342559.5:p.Val817AspfsTer3
ENST00000400366.5:c.2738_2739del	ENSP00000383217.3:p.Val913AspfsTer3
ENST00000400370.8:c.1781_1782del	ENSP00000383221.3:p.Val594AspfsTer3
ENST00000418097.7:c.2876_2877del	ENSP00000393343.2:p.Val959AspfsTer3
ENST00000448424.6:c.2837_2838del	ENSP00000416738.2:p.Val946AspfsTer3
ENST00000466629.1:n.291_292del
ENST00000634296.1:c.1022-1727_1022-1726del
ENST00000634308.1:c.*172_*173del	ENSP00000489234.1:n.*172_*173del
ENST00000634620.1:n.3815_3816del
ENST00000634810.1:n.2416_2417del
ENST00000634844.1:c.2927_2928del	ENSP00000489398.1:p.Val976AspfsTer3
ENST00000635406.1:n.417_418del
NM_000053.3:c.3071_3072del	NP_000044.2:p.Val1024AspfsTer3
NM_001005918.2:c.2450_2451del	NP_001005918.1:p.Val817AspfsTer3
NM_001243182.1:c.2738_2739del	NP_001230111.1:p.Val913AspfsTer3
XM_005266423.2:c.2975_2976del	XP_005266480.1:p.Val992AspfsTer3
XM_005266424.3:c.2975_2976del	XP_005266481.1:p.Val992AspfsTer3
XM_005266427.2:c.2837_2838del	XP_005266484.1:p.Val946AspfsTer3
XM_005266428.1:c.2819_2820del	XP_005266485.1:p.Val940AspfsTer3
XM_005266430.3:c.3071_3072del	XP_005266487.1:p.Val1024AspfsTer3
XM_005266431.2:c.3035_3036del	XP_005266488.1:p.Val1012AspfsTer3
XM_005266432.2:c.2585_2586del	XP_005266489.1:p.Val862AspfsTer3
XM_006719837.2:c.2975_2976del	XP_006719900.1:p.Val992AspfsTer3
XM_006719838.1:c.887_888del	XP_006719901.1:p.Val296AspfsTer3
XM_006719839.1:c.877-1727_877-1726del	XP_006719902.1:n.877-1727_877-1726del
XM_011535117.1:c.2975_2976del	XP_011533419.1:p.Val992AspfsTer3
XM_011535118.1:c.2936_2937del	XP_011533420.1:p.Val979AspfsTer3
XM_011535119.1:c.3061-1727_3061-1726del	XP_011533421.1:n.3061-1727_3061-1726del
XM_011535120.1:c.2657_2658del	XP_011533422.1:p.Val886AspfsTer3
XM_011535121.1:c.2731-1727_2731-1726del	XP_011533423.1:n.2731-1727_2731-1726del
XM_011535122.1:c.1739_1740del	XP_011533424.1:p.Val580AspfsTer3
XR_941601.1:n.3290_3291del
XR_941602.1:n.3290_3291del
XR_941603.1:n.3290_3291del
XR_941604.1:n.3290_3291del
NM_001330578.1:c.2837_2838del	NP_001317507.1:p.Val946AspfsTer3
NM_001330579.1:c.2819_2820del	NP_001317508.1:p.Val940AspfsTer3
XM_005266424.4:c.2975_2976del	XP_005266481.1:p.Val992AspfsTer3
XM_005266430.4:c.3071_3072del	XP_005266487.1:p.Val1024AspfsTer3
XM_005266431.4:c.3035_3036del	XP_005266488.1:p.Val1012AspfsTer3
XM_006719837.3:c.2975_2976del	XP_006719900.1:p.Val992AspfsTer3
XM_011535117.3:c.2975_2976del	XP_011533419.1:p.Val992AspfsTer3
XM_017020627.1:c.2975_2976del	XP_016876116.1:p.Val992AspfsTer3
NM_000053.4:c.3071_3072del MANE Select	NP_000044.2:p.Val1024AspfsTer3
NM_001005918.3:c.2450_2451del	NP_001005918.1:p.Val817AspfsTer3
NM_001330579.2:c.2819_2820del	NP_001317508.1:p.Val940AspfsTer3
NM_001243182.2:c.2738_2739del	NP_001230111.1:p.Val913AspfsTer3
NM_001330578.2:c.2837_2838del	NP_001317507.1:p.Val946AspfsTer3