Canonical Allele Identifier: CA2623116142

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944120-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944123del , CM000675.2:g.51944123del	GRCh38
NC_000013.10:g.52518259del , CM000675.1:g.52518259del	GRCh37
NC_000013.9:g.51416260del	NCBI36
NG_008806.1:g.72374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1567del	ENSP00000489512.2:n.*894-1567del
ENST00000673864.2:c.*1975del	ENSP00000501045.2:n.*1975del
ENST00000674147.2:c.2610del	ENSP00000500964.2:p.Lys870AsnfsTer?
ENST00000242839.10:c.3231del MANE Select	ENSP00000242839.5:p.Lys1077AsnfsTer?
ENST00000344297.9:c.2610del	ENSP00000342559.5:p.Lys870AsnfsTer?
ENST00000400366.6:c.2898del	ENSP00000383217.3:p.Lys966AsnfsTer?
ENST00000448424.7:c.2979del	ENSP00000416738.3:p.Lys993AsnfsTer?
ENST00000673772.1:c.2997del	ENSP00000501168.1:p.Lys999AsnfsTer?
ENST00000673867.1:n.3370del
ENST00000674126.1:n.3594del
ENST00000674147.1:c.2166del	ENSP00000500964.1:p.Lys722AsnfsTer?
ENST00000242839.8:c.3231del	ENSP00000242839.4:p.Lys1077AsnfsTer?
ENST00000344297.8:c.2610del	ENSP00000342559.5:p.Lys870AsnfsTer?
ENST00000400366.5:c.2898del	ENSP00000383217.3:p.Lys966AsnfsTer?
ENST00000400370.8:c.1941del	ENSP00000383221.3:p.Lys647AsnfsTer?
ENST00000418097.7:c.3036del	ENSP00000393343.2:p.Lys1012AsnfsTer?
ENST00000448424.6:c.2997del	ENSP00000416738.2:p.Lys999AsnfsTer?
ENST00000466629.1:n.451del
ENST00000634296.1:c.1022-1567del
ENST00000634308.1:c.*332del	ENSP00000489234.1:n.*332del
ENST00000634620.1:n.3975del
ENST00000634810.1:n.2576del
ENST00000634844.1:c.3087del	ENSP00000489398.1:p.Lys1029AsnfsTer?
NM_000053.3:c.3231del	NP_000044.2:p.Lys1077AsnfsTer?
NM_001005918.2:c.2610del	NP_001005918.1:p.Lys870AsnfsTer?
NM_001243182.1:c.2898del	NP_001230111.1:p.Lys966AsnfsTer?
XM_005266423.2:c.3135del	XP_005266480.1:p.Lys1045AsnfsTer?
XM_005266424.3:c.3135del	XP_005266481.1:p.Lys1045AsnfsTer?
XM_005266427.2:c.2997del	XP_005266484.1:p.Lys999AsnfsTer?
XM_005266428.1:c.2979del	XP_005266485.1:p.Lys993AsnfsTer?
XM_005266430.3:c.3231del	XP_005266487.1:p.Lys1077AsnfsTer?
XM_005266431.2:c.3195del	XP_005266488.1:p.Lys1065AsnfsTer?
XM_005266432.2:c.2745del	XP_005266489.1:p.Lys915AsnfsTer?
XM_006719837.2:c.3135del	XP_006719900.1:p.Lys1045AsnfsTer?
XM_006719838.1:c.1047del	XP_006719901.1:p.Lys349AsnfsTer?
XM_006719839.1:c.877-1567del	XP_006719902.1:n.877-1567del
XM_011535117.1:c.3135del	XP_011533419.1:p.Lys1045AsnfsTer?
XM_011535118.1:c.3096del	XP_011533420.1:p.Lys1032AsnfsTer?
XM_011535119.1:c.3061-1567del	XP_011533421.1:n.3061-1567del
XM_011535120.1:c.2817del	XP_011533422.1:p.Lys939AsnfsTer?
XM_011535121.1:c.2731-1567del	XP_011533423.1:n.2731-1567del
XM_011535122.1:c.1899del	XP_011533424.1:p.Lys633AsnfsTer?
XR_941601.1:n.3450del
XR_941602.1:n.3450del
XR_941603.1:n.3450del
XR_941604.1:n.3450del
NM_001330578.1:c.2997del	NP_001317507.1:p.Lys999AsnfsTer?
NM_001330579.1:c.2979del	NP_001317508.1:p.Lys993AsnfsTer?
XM_005266424.4:c.3135del	XP_005266481.1:p.Lys1045AsnfsTer?
XM_005266430.4:c.3231del	XP_005266487.1:p.Lys1077AsnfsTer?
XM_005266431.4:c.3195del	XP_005266488.1:p.Lys1065AsnfsTer?
XM_006719837.3:c.3135del	XP_006719900.1:p.Lys1045AsnfsTer?
XM_011535117.3:c.3135del	XP_011533419.1:p.Lys1045AsnfsTer?
XM_017020627.1:c.3135del	XP_016876116.1:p.Lys1045AsnfsTer?
NM_000053.4:c.3231del MANE Select	NP_000044.2:p.Lys1077AsnfsTer?
NM_001005918.3:c.2610del	NP_001005918.1:p.Lys870AsnfsTer?
NM_001330579.2:c.2979del	NP_001317508.1:p.Lys993AsnfsTer?
NM_001243182.2:c.2898del	NP_001230111.1:p.Lys966AsnfsTer?
NM_001330578.2:c.2997del	NP_001317507.1:p.Lys999AsnfsTer?