Canonical Allele Identifier: CA2091550057

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958431_51958433delinsCAG , CM000675.2:g.51958431_51958433delinsCAG	GRCh38
NC_000013.10:g.52532567_52532569delinsCAG , CM000675.1:g.52532567_52532569delinsCAG	GRCh37
NC_000013.9:g.51430568_51430570delinsCAG	NCBI36
NG_008806.1:g.58062_58064delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*66_*68delinsCTG	ENSP00000489512.2:n.*66_*68delinsCTG
ENST00000673864.2:c.*977_*979delinsCTG	ENSP00000501045.2:n.*977_*979delinsCTG
ENST00000674147.2:c.1870-826_1870-824delinsCTG	ENSP00000500964.2:n.1870-826_1870-824delinsCTG
ENST00000242839.10:c.2233_2235delinsCTG MANE Select	ENSP00000242839.5:p.Leu745=
ENST00000344297.9:c.1870-826_1870-824delinsCTG	ENSP00000342559.5:n.1870-826_1870-824delinsCTG
ENST00000400366.6:c.1900_1902delinsCTG	ENSP00000383217.3:p.Leu634=
ENST00000448424.7:c.1981_1983delinsCTG	ENSP00000416738.3:p.Leu661=
ENST00000673772.1:c.2122-826_2122-824delinsCTG	ENSP00000501168.1:n.2122-826_2122-824delinsCTG
ENST00000674147.1:c.1426-826_1426-824delinsCTG	ENSP00000500964.1:n.1426-826_1426-824delinsCTG
ENST00000242839.8:c.2233_2235delinsCTG	ENSP00000242839.4:p.Leu745=
ENST00000344297.8:c.1870-826_1870-824delinsCTG	ENSP00000342559.5:n.1870-826_1870-824delinsCTG
ENST00000400366.5:c.1900_1902delinsCTG	ENSP00000383217.3:p.Leu634=
ENST00000400370.8:c.1286-8272_1286-8270delinsCTG	ENSP00000383221.3:n.1286-8272_1286-8270delinsCTG
ENST00000418097.7:c.2233_2235delinsCTG	ENSP00000393343.2:p.Leu745=
ENST00000448424.6:c.2122-826_2122-824delinsCTG	ENSP00000416738.2:n.2122-826_2122-824delinsCTG
ENST00000482841.6:n.1776_1778delinsCTG
ENST00000634296.1:c.194_196delinsCTG
ENST00000634308.1:c.2122-826_2122-824delinsCTG	ENSP00000489234.1:n.2122-826_2122-824delinsCTG
ENST00000634620.1:n.2328_2330delinsCTG
ENST00000634810.1:n.1578_1580delinsCTG
ENST00000634844.1:c.2122-33_2122-31delinsCTG	ENSP00000489398.1:n.2122-33_2122-31delinsCTG
ENST00000635406.1:n.212-11955_212-11953delinsCTG
NM_000053.3:c.2233_2235delinsCTG	NP_000044.2:p.Leu745=
NM_001005918.2:c.1870-826_1870-824delinsCTG	NP_001005918.1:n.1870-826_1870-824delinsCTG
NM_001243182.1:c.1900_1902delinsCTG	NP_001230111.1:p.Leu634=
XM_005266423.2:c.2137_2139delinsCTG	XP_005266480.1:p.Leu713=
XM_005266424.3:c.2137_2139delinsCTG	XP_005266481.1:p.Leu713=
XM_005266427.2:c.2122-826_2122-824delinsCTG	XP_005266484.1:n.2122-826_2122-824delinsCTG
XM_005266428.1:c.1981_1983delinsCTG	XP_005266485.1:p.Leu661=
XM_005266430.3:c.2233_2235delinsCTG	XP_005266487.1:p.Leu745=
XM_005266431.2:c.2197_2199delinsCTG	XP_005266488.1:p.Leu733=
XM_005266432.2:c.1870-826_1870-824delinsCTG	XP_005266489.1:n.1870-826_1870-824delinsCTG
XM_006719837.2:c.2137_2139delinsCTG	XP_006719900.1:p.Leu713=
XM_006719838.1:c.49_51delinsCTG	XP_006719901.1:p.Leu17=
XM_006719839.1:c.49_51delinsCTG	XP_006719902.1:p.Leu17=
XM_011535117.1:c.2137_2139delinsCTG	XP_011533419.1:p.Leu713=
XM_011535118.1:c.2233_2235delinsCTG	XP_011533420.1:p.Leu745=
XM_011535119.1:c.2233_2235delinsCTG	XP_011533421.1:p.Leu745=
XM_011535120.1:c.1819_1821delinsCTG	XP_011533422.1:p.Leu607=
XM_011535121.1:c.2233_2235delinsCTG	XP_011533423.1:p.Leu745=
XM_011535122.1:c.901_903delinsCTG	XP_011533424.1:p.Leu301=
XR_941601.1:n.2452_2454delinsCTG
XR_941602.1:n.2452_2454delinsCTG
XR_941603.1:n.2452_2454delinsCTG
XR_941604.1:n.2452_2454delinsCTG
NM_001330578.1:c.2122-826_2122-824delinsCTG	NP_001317507.1:n.2122-826_2122-824delinsCTG
NM_001330579.1:c.1981_1983delinsCTG	NP_001317508.1:p.Leu661=
XM_005266424.4:c.2137_2139delinsCTG	XP_005266481.1:p.Leu713=
XM_005266430.4:c.2233_2235delinsCTG	XP_005266487.1:p.Leu745=
XM_005266431.4:c.2197_2199delinsCTG	XP_005266488.1:p.Leu733=
XM_006719837.3:c.2137_2139delinsCTG	XP_006719900.1:p.Leu713=
XM_011535117.3:c.2137_2139delinsCTG	XP_011533419.1:p.Leu713=
XM_017020627.1:c.2137_2139delinsCTG	XP_016876116.1:p.Leu713=
NM_000053.4:c.2233_2235delinsCTG MANE Select	NP_000044.2:p.Leu745=
NM_001005918.3:c.1870-826_1870-824delinsCTG	NP_001005918.1:n.1870-826_1870-824delinsCTG
NM_001330579.2:c.1981_1983delinsCTG	NP_001317508.1:p.Leu661=
NM_001243182.2:c.1900_1902delinsCTG	NP_001230111.1:p.Leu634=
NM_001330578.2:c.2122-826_2122-824delinsCTG	NP_001317507.1:n.2122-826_2122-824delinsCTG