Canonical Allele Identifier: CA2695218775

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949663_51949666del , CM000675.2:g.51949663_51949666del	GRCh38
NC_000013.10:g.52523799_52523802del , CM000675.1:g.52523799_52523802del	GRCh37
NC_000013.9:g.51421800_51421803del	NCBI36
NG_008806.1:g.66830_66833del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*695_*698del	ENSP00000489512.2:n.*695_*698del
ENST00000673864.2:c.*1606_*1609del	ENSP00000501045.2:n.*1606_*1609del
ENST00000674147.2:c.2244+342_2244+345del	ENSP00000500964.2:n.2244+342_2244+345del
ENST00000242839.10:c.2862_2865del MANE Select	ENSP00000242839.5:p.Phe954LeufsTer12
ENST00000344297.9:c.2244+342_2244+345del	ENSP00000342559.5:n.2244+342_2244+345del
ENST00000400366.6:c.2529_2532del	ENSP00000383217.3:p.Phe843LeufsTer12
ENST00000448424.7:c.2610_2613del	ENSP00000416738.3:p.Phe870LeufsTer12
ENST00000673772.1:c.2628_2631del	ENSP00000501168.1:p.Phe876LeufsTer12
ENST00000674126.1:n.42_45del
ENST00000674147.1:c.1800+342_1800+345del	ENSP00000500964.1:n.1800+342_1800+345del
ENST00000242839.8:c.2862_2865del	ENSP00000242839.4:p.Phe954LeufsTer12
ENST00000344297.8:c.2244+342_2244+345del	ENSP00000342559.5:n.2244+342_2244+345del
ENST00000400366.5:c.2529_2532del	ENSP00000383217.3:p.Phe843LeufsTer12
ENST00000400370.8:c.1572_1575del	ENSP00000383221.3:p.Phe524LeufsTer12
ENST00000418097.7:c.2862_2865del	ENSP00000393343.2:p.Phe954LeufsTer2
ENST00000448424.6:c.2628_2631del	ENSP00000416738.2:p.Phe876LeufsTer12
ENST00000634296.1:c.823_826del
ENST00000634308.1:c.2628_2631del	ENSP00000489234.1:p.Phe876LeufsTer7
ENST00000634620.1:n.3609+51_3609+54del
ENST00000634810.1:n.2207_2210del
ENST00000634844.1:c.2718_2721del	ENSP00000489398.1:p.Phe906LeufsTer12
ENST00000635406.1:n.212-3187_212-3184del
NM_000053.3:c.2862_2865del	NP_000044.2:p.Phe954LeufsTer12
NM_001005918.2:c.2244+342_2244+345del	NP_001005918.1:n.2244+342_2244+345del
NM_001243182.1:c.2529_2532del	NP_001230111.1:p.Phe843LeufsTer12
XM_005266423.2:c.2766_2769del	XP_005266480.1:p.Phe922LeufsTer12
XM_005266424.3:c.2766_2769del	XP_005266481.1:p.Phe922LeufsTer12
XM_005266427.2:c.2628_2631del	XP_005266484.1:p.Phe876LeufsTer12
XM_005266428.1:c.2610_2613del	XP_005266485.1:p.Phe870LeufsTer12
XM_005266430.3:c.2862_2865del	XP_005266487.1:p.Phe954LeufsTer12
XM_005266431.2:c.2826_2829del	XP_005266488.1:p.Phe942LeufsTer12
XM_005266432.2:c.2376_2379del	XP_005266489.1:p.Phe792LeufsTer12
XM_006719837.2:c.2766_2769del	XP_006719900.1:p.Phe922LeufsTer12
XM_006719838.1:c.678_681del	XP_006719901.1:p.Phe226LeufsTer12
XM_006719839.1:c.678_681del	XP_006719902.1:p.Phe226LeufsTer12
XM_011535117.1:c.2766_2769del	XP_011533419.1:p.Phe922LeufsTer12
XM_011535118.1:c.2730+342_2730+345del	XP_011533420.1:n.2730+342_2730+345del
XM_011535119.1:c.2862_2865del	XP_011533421.1:p.Phe954LeufsTer12
XM_011535120.1:c.2448_2451del	XP_011533422.1:p.Phe816LeufsTer12
XM_011535121.1:c.2730+342_2730+345del	XP_011533423.1:n.2730+342_2730+345del
XM_011535122.1:c.1530_1533del	XP_011533424.1:p.Phe510LeufsTer12
XR_941601.1:n.3081_3084del
XR_941602.1:n.3081_3084del
XR_941603.1:n.3081_3084del
XR_941604.1:n.3081_3084del
NM_001330578.1:c.2628_2631del	NP_001317507.1:p.Phe876LeufsTer12
NM_001330579.1:c.2610_2613del	NP_001317508.1:p.Phe870LeufsTer12
XM_005266424.4:c.2766_2769del	XP_005266481.1:p.Phe922LeufsTer12
XM_005266430.4:c.2862_2865del	XP_005266487.1:p.Phe954LeufsTer12
XM_005266431.4:c.2826_2829del	XP_005266488.1:p.Phe942LeufsTer12
XM_006719837.3:c.2766_2769del	XP_006719900.1:p.Phe922LeufsTer12
XM_011535117.3:c.2766_2769del	XP_011533419.1:p.Phe922LeufsTer12
XM_017020627.1:c.2766_2769del	XP_016876116.1:p.Phe922LeufsTer12
NM_000053.4:c.2862_2865del MANE Select	NP_000044.2:p.Phe954LeufsTer12
NM_001005918.3:c.2244+342_2244+345del	NP_001005918.1:n.2244+342_2244+345del
NM_001330579.2:c.2610_2613del	NP_001317508.1:p.Phe870LeufsTer12
NM_001243182.2:c.2529_2532del	NP_001230111.1:p.Phe843LeufsTer12
NM_001330578.2:c.2628_2631del	NP_001317507.1:p.Phe876LeufsTer12