Canonical Allele Identifier: CA2623119748

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941101-GCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941107_51941110del , CM000675.2:g.51941107_51941110del	GRCh38
NC_000013.10:g.52515243_52515246del , CM000675.1:g.52515243_52515246del	GRCh37
NC_000013.9:g.51413244_51413247del	NCBI36
NG_008806.1:g.75390_75393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1182_*1185del	ENSP00000489512.2:n.*1182_*1185del
ENST00000673864.2:c.*2276_*2279del	ENSP00000501045.2:n.*2276_*2279del
ENST00000674147.2:c.2911_2914del	ENSP00000500964.2:p.Thr971ProfsTer13
ENST00000242839.10:c.3532_3535del MANE Select	ENSP00000242839.5:p.Thr1178ProfsTer13
ENST00000344297.9:c.2911_2914del	ENSP00000342559.5:p.Thr971ProfsTer13
ENST00000400366.6:c.3199_3202del	ENSP00000383217.3:p.Thr1067ProfsTer13
ENST00000448424.7:c.3280_3283del	ENSP00000416738.3:p.Thr1094ProfsTer13
ENST00000673772.1:c.3298_3301del	ENSP00000501168.1:p.Thr1100ProfsTer13
ENST00000673867.1:n.3671_3674del
ENST00000674126.1:n.3895_3898del
ENST00000674147.1:c.2467_2470del	ENSP00000500964.1:p.Thr823ProfsTer13
ENST00000242839.8:c.3532_3535del	ENSP00000242839.4:p.Thr1178ProfsTer13
ENST00000344297.8:c.2911_2914del	ENSP00000342559.5:p.Thr971ProfsTer13
ENST00000400366.5:c.3199_3202del	ENSP00000383217.3:p.Thr1067ProfsTer13
ENST00000400370.8:c.2242_2245del	ENSP00000383221.3:p.Thr748ProfsTer13
ENST00000418097.7:c.3337_3340del	ENSP00000393343.2:p.Thr1113ProfsTer13
ENST00000448424.6:c.3298_3301del	ENSP00000416738.2:p.Thr1100ProfsTer13
ENST00000634296.1:c.1310_1313del
ENST00000634308.1:c.*633_*636del	ENSP00000489234.1:n.*633_*636del
ENST00000634620.1:n.4276_4279del
ENST00000634810.1:n.2877_2880del
ENST00000634844.1:c.3388_3391del	ENSP00000489398.1:p.Thr1130ProfsTer13
NM_000053.3:c.3532_3535del	NP_000044.2:p.Thr1178ProfsTer13
NM_001005918.2:c.2911_2914del	NP_001005918.1:p.Thr971ProfsTer13
NM_001243182.1:c.3199_3202del	NP_001230111.1:p.Thr1067ProfsTer13
XM_005266423.2:c.3436_3439del	XP_005266480.1:p.Thr1146ProfsTer13
XM_005266424.3:c.3436_3439del	XP_005266481.1:p.Thr1146ProfsTer13
XM_005266427.2:c.3298_3301del	XP_005266484.1:p.Thr1100ProfsTer13
XM_005266428.1:c.3280_3283del	XP_005266485.1:p.Thr1094ProfsTer13
XM_005266430.3:c.3532_3535del	XP_005266487.1:p.Thr1178ProfsTer13
XM_005266431.2:c.3496_3499del	XP_005266488.1:p.Thr1166ProfsTer13
XM_005266432.2:c.3046_3049del	XP_005266489.1:p.Thr1016ProfsTer13
XM_006719837.2:c.3436_3439del	XP_006719900.1:p.Thr1146ProfsTer13
XM_006719838.1:c.1348_1351del	XP_006719901.1:p.Thr450ProfsTer13
XM_006719839.1:c.1165_1168del	XP_006719902.1:p.Thr389ProfsTer13
XM_011535117.1:c.3436_3439del	XP_011533419.1:p.Thr1146ProfsTer13
XM_011535118.1:c.3397_3400del	XP_011533420.1:p.Thr1133ProfsTer13
XM_011535119.1:c.3349_3352del	XP_011533421.1:p.Thr1117ProfsTer13
XM_011535120.1:c.3118_3121del	XP_011533422.1:p.Thr1040ProfsTer13
XM_011535121.1:c.3019_3022del	XP_011533423.1:p.Thr1007ProfsTer13
XM_011535122.1:c.2200_2203del	XP_011533424.1:p.Thr734ProfsTer13
XR_941601.1:n.3751_3754del
XR_941602.1:n.3751_3754del
XR_941603.1:n.3751_3754del
XR_941604.1:n.3751_3754del
NM_001330578.1:c.3298_3301del	NP_001317507.1:p.Thr1100ProfsTer13
NM_001330579.1:c.3280_3283del	NP_001317508.1:p.Thr1094ProfsTer13
XM_005266424.4:c.3436_3439del	XP_005266481.1:p.Thr1146ProfsTer13
XM_005266430.4:c.3532_3535del	XP_005266487.1:p.Thr1178ProfsTer13
XM_005266431.4:c.3496_3499del	XP_005266488.1:p.Thr1166ProfsTer13
XM_006719837.3:c.3436_3439del	XP_006719900.1:p.Thr1146ProfsTer13
XM_011535117.3:c.3436_3439del	XP_011533419.1:p.Thr1146ProfsTer13
XM_017020627.1:c.3436_3439del	XP_016876116.1:p.Thr1146ProfsTer13
NM_000053.4:c.3532_3535del MANE Select	NP_000044.2:p.Thr1178ProfsTer13
NM_001005918.3:c.2911_2914del	NP_001005918.1:p.Thr971ProfsTer13
NM_001330579.2:c.3280_3283del	NP_001317508.1:p.Thr1094ProfsTer13
NM_001243182.2:c.3199_3202del	NP_001230111.1:p.Thr1067ProfsTer13
NM_001330578.2:c.3298_3301del	NP_001317507.1:p.Thr1100ProfsTer13