Canonical Allele Identifier: CA2091541378
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51949716_51949717delinsCA , CM000675.2:g.51949716_51949717delinsCA GRCh38
NC_000013.10:g.52523852_52523853delinsCA , CM000675.1:g.52523852_52523853delinsCA GRCh37
NC_000013.9:g.51421853_51421854delinsCA NCBI36
NG_008806.1:g.66778_66779delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*643_*644delinsTG ENSP00000489512.2:n.*643_*644delinsTG
ENST00000673864.2:c.*1554_*1555delinsTG ENSP00000501045.2:n.*1554_*1555delinsTG
ENST00000674147.2:c.2244+290_2244+291delinsTG ENSP00000500964.2:n.2244+290_2244+291deli...
ENST00000242839.10:c.2810_2811delinsTG MANE Select ENSP00000242839.5:p.Val937=
ENST00000344297.9:c.2244+290_2244+291delinsTG ENSP00000342559.5:n.2244+290_2244+291deli...
ENST00000400366.6:c.2477_2478delinsTG ENSP00000383217.3:p.Val826=
ENST00000448424.7:c.2558_2559delinsTG ENSP00000416738.3:p.Val853=
ENST00000673772.1:c.2576_2577delinsTG ENSP00000501168.1:p.Val859=
ENST00000674147.1:c.1800+290_1800+291delinsTG ENSP00000500964.1:n.1800+290_1800+291deli...
ENST00000242839.8:c.2810_2811delinsTG ENSP00000242839.4:p.Val937=
ENST00000344297.8:c.2244+290_2244+291delinsTG ENSP00000342559.5:n.2244+290_2244+291deli...
ENST00000400366.5:c.2477_2478delinsTG ENSP00000383217.3:p.Val826=
ENST00000400370.8:c.1520_1521delinsTG ENSP00000383221.3:p.Val507=
ENST00000418097.7:c.2810_2811delinsTG ENSP00000393343.2:p.Val937=
ENST00000448424.6:c.2576_2577delinsTG ENSP00000416738.2:p.Val859=
ENST00000634296.1:c.771_772delinsTG
ENST00000634308.1:c.2576_2577delinsTG ENSP00000489234.1:p.Val859=
ENST00000634620.1:n.3608_3609delinsTG
ENST00000634810.1:n.2155_2156delinsTG
ENST00000634844.1:c.2666_2667delinsTG ENSP00000489398.1:p.Val889=
ENST00000635406.1:n.212-3239_212-3238delinsTG
NM_000053.3:c.2810_2811delinsTG NP_000044.2:p.Val937=
NM_001005918.2:c.2244+290_2244+291delinsTG NP_001005918.1:n.2244+290_2244+291delinsT...
NM_001243182.1:c.2477_2478delinsTG NP_001230111.1:p.Val826=
XM_005266423.2:c.2714_2715delinsTG XP_005266480.1:p.Val905=
XM_005266424.3:c.2714_2715delinsTG XP_005266481.1:p.Val905=
XM_005266427.2:c.2576_2577delinsTG XP_005266484.1:p.Val859=
XM_005266428.1:c.2558_2559delinsTG XP_005266485.1:p.Val853=
XM_005266430.3:c.2810_2811delinsTG XP_005266487.1:p.Val937=
XM_005266431.2:c.2774_2775delinsTG XP_005266488.1:p.Val925=
XM_005266432.2:c.2324_2325delinsTG XP_005266489.1:p.Val775=
XM_006719837.2:c.2714_2715delinsTG XP_006719900.1:p.Val905=
XM_006719838.1:c.626_627delinsTG XP_006719901.1:p.Val209=
XM_006719839.1:c.626_627delinsTG XP_006719902.1:p.Val209=
XM_011535117.1:c.2714_2715delinsTG XP_011533419.1:p.Val905=
XM_011535118.1:c.2730+290_2730+291delinsTG XP_011533420.1:n.2730+290_2730+291delinsT...
XM_011535119.1:c.2810_2811delinsTG XP_011533421.1:p.Val937=
XM_011535120.1:c.2396_2397delinsTG XP_011533422.1:p.Val799=
XM_011535121.1:c.2730+290_2730+291delinsTG XP_011533423.1:n.2730+290_2730+291delinsT...
XM_011535122.1:c.1478_1479delinsTG XP_011533424.1:p.Val493=
XR_941601.1:n.3029_3030delinsTG
XR_941602.1:n.3029_3030delinsTG
XR_941603.1:n.3029_3030delinsTG
XR_941604.1:n.3029_3030delinsTG
NM_001330578.1:c.2576_2577delinsTG NP_001317507.1:p.Val859=
NM_001330579.1:c.2558_2559delinsTG NP_001317508.1:p.Val853=
XM_005266424.4:c.2714_2715delinsTG XP_005266481.1:p.Val905=
XM_005266430.4:c.2810_2811delinsTG XP_005266487.1:p.Val937=
XM_005266431.4:c.2774_2775delinsTG XP_005266488.1:p.Val925=
XM_006719837.3:c.2714_2715delinsTG XP_006719900.1:p.Val905=
XM_011535117.3:c.2714_2715delinsTG XP_011533419.1:p.Val905=
XM_017020627.1:c.2714_2715delinsTG XP_016876116.1:p.Val905=
NM_000053.4:c.2810_2811delinsTG MANE Select NP_000044.2:p.Val937=
NM_001005918.3:c.2244+290_2244+291delinsTG NP_001005918.1:n.2244+290_2244+291delinsT...
NM_001330579.2:c.2558_2559delinsTG NP_001317508.1:p.Val853=
NM_001243182.2:c.2477_2478delinsTG NP_001230111.1:p.Val826=
NM_001330578.2:c.2576_2577delinsTG NP_001317507.1:p.Val859=