Canonical Allele Identifier: CA2580614732

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1724278
• ClinVar RCV Id: RCV002309546

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946398_51946401del , CM000675.2:g.51946398_51946401del	GRCh38
NC_000013.10:g.52520534_52520537del , CM000675.1:g.52520534_52520537del	GRCh37
NC_000013.9:g.51418535_51418538del	NCBI36
NG_008806.1:g.70098_70101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*780_*783del	ENSP00000489512.2:n.*780_*783del
ENST00000673864.2:c.*1691_*1694del	ENSP00000501045.2:n.*1691_*1694del
ENST00000674147.2:c.2326_2329del	ENSP00000500964.2:p.Cys776ProfsTer?
ENST00000242839.10:c.2947_2950del MANE Select	ENSP00000242839.5:p.Cys983ProfsTer?
ENST00000344297.9:c.2326_2329del	ENSP00000342559.5:p.Cys776ProfsTer?
ENST00000400366.6:c.2614_2617del	ENSP00000383217.3:p.Cys872ProfsTer?
ENST00000448424.7:c.2695_2698del	ENSP00000416738.3:p.Cys899ProfsTer?
ENST00000673772.1:c.2713_2716del	ENSP00000501168.1:p.Cys905ProfsTer?
ENST00000673867.1:n.1094_1097del
ENST00000674126.1:n.3310_3313del
ENST00000674147.1:c.1882_1885del	ENSP00000500964.1:p.Cys628ProfsTer?
ENST00000242839.8:c.2947_2950del	ENSP00000242839.4:p.Cys983ProfsTer?
ENST00000344297.8:c.2326_2329del	ENSP00000342559.5:p.Cys776ProfsTer?
ENST00000400366.5:c.2614_2617del	ENSP00000383217.3:p.Cys872ProfsTer?
ENST00000400370.8:c.1657_1660del	ENSP00000383221.3:p.Cys553ProfsTer?
ENST00000418097.7:c.2866-2106_2866-2103del	ENSP00000393343.2:n.2866-2106_2866-2103del
ENST00000448424.6:c.2713_2716del	ENSP00000416738.2:p.Cys905ProfsTer?
ENST00000466629.1:n.167_170del
ENST00000634296.1:c.908_911del
ENST00000634308.1:c.*48_*51del	ENSP00000489234.1:n.*48_*51del
ENST00000634620.1:n.3691_3694del
ENST00000634810.1:n.2292_2295del
ENST00000634844.1:c.2803_2806del	ENSP00000489398.1:p.Cys935ProfsTer?
ENST00000635406.1:n.293_296del
NM_000053.3:c.2947_2950del	NP_000044.2:p.Cys983ProfsTer?
NM_001005918.2:c.2326_2329del	NP_001005918.1:p.Cys776ProfsTer?
NM_001243182.1:c.2614_2617del	NP_001230111.1:p.Cys872ProfsTer?
XM_005266423.2:c.2851_2854del	XP_005266480.1:p.Cys951ProfsTer?
XM_005266424.3:c.2851_2854del	XP_005266481.1:p.Cys951ProfsTer?
XM_005266427.2:c.2713_2716del	XP_005266484.1:p.Cys905ProfsTer?
XM_005266428.1:c.2695_2698del	XP_005266485.1:p.Cys899ProfsTer?
XM_005266430.3:c.2947_2950del	XP_005266487.1:p.Cys983ProfsTer?
XM_005266431.2:c.2911_2914del	XP_005266488.1:p.Cys971ProfsTer?
XM_005266432.2:c.2461_2464del	XP_005266489.1:p.Cys821ProfsTer?
XM_006719837.2:c.2851_2854del	XP_006719900.1:p.Cys951ProfsTer?
XM_006719838.1:c.763_766del	XP_006719901.1:p.Cys255ProfsTer?
XM_006719839.1:c.763_766del	XP_006719902.1:p.Cys255ProfsTer?
XM_011535117.1:c.2851_2854del	XP_011533419.1:p.Cys951ProfsTer?
XM_011535118.1:c.2812_2815del	XP_011533420.1:p.Cys938ProfsTer?
XM_011535119.1:c.2947_2950del	XP_011533421.1:p.Cys983ProfsTer?
XM_011535120.1:c.2533_2536del	XP_011533422.1:p.Cys845ProfsTer?
XM_011535121.1:c.2730+3610_2730+3613del	XP_011533423.1:n.2730+3610_2730+3613del
XM_011535122.1:c.1615_1618del	XP_011533424.1:p.Cys539ProfsTer?
XR_941601.1:n.3166_3169del
XR_941602.1:n.3166_3169del
XR_941603.1:n.3166_3169del
XR_941604.1:n.3166_3169del
NM_001330578.1:c.2713_2716del	NP_001317507.1:p.Cys905ProfsTer?
NM_001330579.1:c.2695_2698del	NP_001317508.1:p.Cys899ProfsTer?
XM_005266424.4:c.2851_2854del	XP_005266481.1:p.Cys951ProfsTer?
XM_005266430.4:c.2947_2950del	XP_005266487.1:p.Cys983ProfsTer?
XM_005266431.4:c.2911_2914del	XP_005266488.1:p.Cys971ProfsTer?
XM_006719837.3:c.2851_2854del	XP_006719900.1:p.Cys951ProfsTer?
XM_011535117.3:c.2851_2854del	XP_011533419.1:p.Cys951ProfsTer?
XM_017020627.1:c.2851_2854del	XP_016876116.1:p.Cys951ProfsTer?
NM_000053.4:c.2947_2950del MANE Select	NP_000044.2:p.Cys983ProfsTer?
NM_001005918.3:c.2326_2329del	NP_001005918.1:p.Cys776ProfsTer?
NM_001330579.2:c.2695_2698del	NP_001317508.1:p.Cys899ProfsTer?
NM_001243182.2:c.2614_2617del	NP_001230111.1:p.Cys872ProfsTer?
NM_001330578.2:c.2713_2716del	NP_001317507.1:p.Cys905ProfsTer?