Canonical Allele Identifier: CA2695218738

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944121_51944125delinsCTTGA , CM000675.2:g.51944121_51944125delinsCTTGA	GRCh38
NC_000013.10:g.52518257_52518261delinsCTTGA , CM000675.1:g.52518257_52518261delinsCTTGA	GRCh37
NC_000013.9:g.51416258_51416262delinsCTTGA	NCBI36
NG_008806.1:g.72370_72374delinsTCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1571_*894-1567delinsTCAAG	ENSP00000489512.2:n.*894-1571_*894-1567delinsTCAAG
ENST00000673864.2:c.*1971_*1975delinsTCAAG	ENSP00000501045.2:n.*1971_*1975delinsTCAAG
ENST00000674147.2:c.2606_2610delinsTCAAG	ENSP00000500964.2:p.Thr869Ile
ENST00000242839.10:c.3227_3231delinsTCAAG MANE Select	ENSP00000242839.5:p.Thr1076Ile
ENST00000344297.9:c.2606_2610delinsTCAAG	ENSP00000342559.5:p.Thr869Ile
ENST00000400366.6:c.2894_2898delinsTCAAG	ENSP00000383217.3:p.Thr965Ile
ENST00000448424.7:c.2975_2979delinsTCAAG	ENSP00000416738.3:p.Thr992Ile
ENST00000673772.1:c.2993_2997delinsTCAAG	ENSP00000501168.1:p.Thr998Ile
ENST00000673867.1:n.3366_3370delinsTCAAG
ENST00000674126.1:n.3590_3594delinsTCAAG
ENST00000674147.1:c.2162_2166delinsTCAAG	ENSP00000500964.1:p.Thr721Ile
ENST00000242839.8:c.3227_3231delinsTCAAG	ENSP00000242839.4:p.Thr1076Ile
ENST00000344297.8:c.2606_2610delinsTCAAG	ENSP00000342559.5:p.Thr869Ile
ENST00000400366.5:c.2894_2898delinsTCAAG	ENSP00000383217.3:p.Thr965Ile
ENST00000400370.8:c.1937_1941delinsTCAAG	ENSP00000383221.3:p.Thr646Ile
ENST00000418097.7:c.3032_3036delinsTCAAG	ENSP00000393343.2:p.Thr1011Ile
ENST00000448424.6:c.2993_2997delinsTCAAG	ENSP00000416738.2:p.Thr998Ile
ENST00000466629.1:n.447_451delinsTCAAG
ENST00000634296.1:c.1022-1571_1022-1567delinsTCAAG
ENST00000634308.1:c.*328_*332delinsTCAAG	ENSP00000489234.1:n.*328_*332delinsTCAAG
ENST00000634620.1:n.3971_3975delinsTCAAG
ENST00000634810.1:n.2572_2576delinsTCAAG
ENST00000634844.1:c.3083_3087delinsTCAAG	ENSP00000489398.1:p.Thr1028Ile
NM_000053.3:c.3227_3231delinsTCAAG	NP_000044.2:p.Thr1076Ile
NM_001005918.2:c.2606_2610delinsTCAAG	NP_001005918.1:p.Thr869Ile
NM_001243182.1:c.2894_2898delinsTCAAG	NP_001230111.1:p.Thr965Ile
XM_005266423.2:c.3131_3135delinsTCAAG	XP_005266480.1:p.Thr1044Ile
XM_005266424.3:c.3131_3135delinsTCAAG	XP_005266481.1:p.Thr1044Ile
XM_005266427.2:c.2993_2997delinsTCAAG	XP_005266484.1:p.Thr998Ile
XM_005266428.1:c.2975_2979delinsTCAAG	XP_005266485.1:p.Thr992Ile
XM_005266430.3:c.3227_3231delinsTCAAG	XP_005266487.1:p.Thr1076Ile
XM_005266431.2:c.3191_3195delinsTCAAG	XP_005266488.1:p.Thr1064Ile
XM_005266432.2:c.2741_2745delinsTCAAG	XP_005266489.1:p.Thr914Ile
XM_006719837.2:c.3131_3135delinsTCAAG	XP_006719900.1:p.Thr1044Ile
XM_006719838.1:c.1043_1047delinsTCAAG	XP_006719901.1:p.Thr348Ile
XM_006719839.1:c.877-1571_877-1567delinsTCAAG	XP_006719902.1:n.877-1571_877-1567delinsTCAAG
XM_011535117.1:c.3131_3135delinsTCAAG	XP_011533419.1:p.Thr1044Ile
XM_011535118.1:c.3092_3096delinsTCAAG	XP_011533420.1:p.Thr1031Ile
XM_011535119.1:c.3061-1571_3061-1567delinsTCAAG	XP_011533421.1:n.3061-1571_3061-1567delinsTCAAG
XM_011535120.1:c.2813_2817delinsTCAAG	XP_011533422.1:p.Thr938Ile
XM_011535121.1:c.2731-1571_2731-1567delinsTCAAG	XP_011533423.1:n.2731-1571_2731-1567delinsTCAAG
XM_011535122.1:c.1895_1899delinsTCAAG	XP_011533424.1:p.Thr632Ile
XR_941601.1:n.3446_3450delinsTCAAG
XR_941602.1:n.3446_3450delinsTCAAG
XR_941603.1:n.3446_3450delinsTCAAG
XR_941604.1:n.3446_3450delinsTCAAG
NM_001330578.1:c.2993_2997delinsTCAAG	NP_001317507.1:p.Thr998Ile
NM_001330579.1:c.2975_2979delinsTCAAG	NP_001317508.1:p.Thr992Ile
XM_005266424.4:c.3131_3135delinsTCAAG	XP_005266481.1:p.Thr1044Ile
XM_005266430.4:c.3227_3231delinsTCAAG	XP_005266487.1:p.Thr1076Ile
XM_005266431.4:c.3191_3195delinsTCAAG	XP_005266488.1:p.Thr1064Ile
XM_006719837.3:c.3131_3135delinsTCAAG	XP_006719900.1:p.Thr1044Ile
XM_011535117.3:c.3131_3135delinsTCAAG	XP_011533419.1:p.Thr1044Ile
XM_017020627.1:c.3131_3135delinsTCAAG	XP_016876116.1:p.Thr1044Ile
NM_000053.4:c.3227_3231delinsTCAAG MANE Select	NP_000044.2:p.Thr1076Ile
NM_001005918.3:c.2606_2610delinsTCAAG	NP_001005918.1:p.Thr869Ile
NM_001330579.2:c.2975_2979delinsTCAAG	NP_001317508.1:p.Thr992Ile
NM_001243182.2:c.2894_2898delinsTCAAG	NP_001230111.1:p.Thr965Ile
NM_001330578.2:c.2993_2997delinsTCAAG	NP_001317507.1:p.Thr998Ile