Canonical Allele Identifier: CA2799207900

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958209_51958210insGC , CM000675.2:g.51958209_51958210insGC	GRCh38
NC_000013.10:g.52532345_52532346insGC , CM000675.1:g.52532345_52532346insGC	GRCh37
NC_000013.9:g.51430346_51430347insGC	NCBI36
NG_008806.1:g.58285_58286insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*188+101_*188+102insGC	ENSP00000489512.2:n.*188+101_*188+102insGC
ENST00000673864.2:c.*1099+101_*1099+102insGC	ENSP00000501045.2:n.*1099+101_*1099+102insGC
ENST00000674147.2:c.1870-603_1870-602insGC	ENSP00000500964.2:n.1870-603_1870-602insGC
ENST00000242839.10:c.2355+101_2355+102insGC MANE Select	ENSP00000242839.5:n.2355+101_2355+102insGC
ENST00000344297.9:c.1870-603_1870-602insGC	ENSP00000342559.5:n.1870-603_1870-602insGC
ENST00000400366.6:c.2022+101_2022+102insGC	ENSP00000383217.3:n.2022+101_2022+102insGC
ENST00000448424.7:c.2103+101_2103+102insGC	ENSP00000416738.3:n.2103+101_2103+102insGC
ENST00000673772.1:c.2122-603_2122-602insGC	ENSP00000501168.1:n.2122-603_2122-602insGC
ENST00000674147.1:c.1426-603_1426-602insGC	ENSP00000500964.1:n.1426-603_1426-602insGC
ENST00000242839.8:c.2355+101_2355+102insGC	ENSP00000242839.4:n.2355+101_2355+102insGC
ENST00000344297.8:c.1870-603_1870-602insGC	ENSP00000342559.5:n.1870-603_1870-602insGC
ENST00000400366.5:c.2022+101_2022+102insGC	ENSP00000383217.3:n.2022+101_2022+102insGC
ENST00000400370.8:c.1286-8049_1286-8048insGC	ENSP00000383221.3:n.1286-8049_1286-8048insGC
ENST00000418097.7:c.2355+101_2355+102insGC	ENSP00000393343.2:n.2355+101_2355+102insGC
ENST00000448424.6:c.2122-603_2122-602insGC	ENSP00000416738.2:n.2122-603_2122-602insGC
ENST00000634296.1:c.316+101_316+102insGC
ENST00000634308.1:c.2122-603_2122-602insGC	ENSP00000489234.1:n.2122-603_2122-602insGC
ENST00000634620.1:n.2551_2552insGC
ENST00000634810.1:n.1700+101_1700+102insGC
ENST00000634844.1:c.2211+101_2211+102insGC	ENSP00000489398.1:n.2211+101_2211+102insGC
ENST00000635406.1:n.212-11732_212-11731insGC
NM_000053.3:c.2355+101_2355+102insGC	NP_000044.2:n.2355+101_2355+102insGC
NM_001005918.2:c.1870-603_1870-602insGC	NP_001005918.1:n.1870-603_1870-602insGC
NM_001243182.1:c.2022+101_2022+102insGC	NP_001230111.1:n.2022+101_2022+102insGC
XM_005266423.2:c.2259+101_2259+102insGC	XP_005266480.1:n.2259+101_2259+102insGC
XM_005266424.3:c.2259+101_2259+102insGC	XP_005266481.1:n.2259+101_2259+102insGC
XM_005266427.2:c.2122-603_2122-602insGC	XP_005266484.1:n.2122-603_2122-602insGC
XM_005266428.1:c.2103+101_2103+102insGC	XP_005266485.1:n.2103+101_2103+102insGC
XM_005266430.3:c.2355+101_2355+102insGC	XP_005266487.1:n.2355+101_2355+102insGC
XM_005266431.2:c.2319+101_2319+102insGC	XP_005266488.1:n.2319+101_2319+102insGC
XM_005266432.2:c.1870-603_1870-602insGC	XP_005266489.1:n.1870-603_1870-602insGC
XM_006719837.2:c.2259+101_2259+102insGC	XP_006719900.1:n.2259+101_2259+102insGC
XM_006719838.1:c.171+101_171+102insGC	XP_006719901.1:n.171+101_171+102insGC
XM_006719839.1:c.171+101_171+102insGC	XP_006719902.1:n.171+101_171+102insGC
XM_011535117.1:c.2259+101_2259+102insGC	XP_011533419.1:n.2259+101_2259+102insGC
XM_011535118.1:c.2355+101_2355+102insGC	XP_011533420.1:n.2355+101_2355+102insGC
XM_011535119.1:c.2355+101_2355+102insGC	XP_011533421.1:n.2355+101_2355+102insGC
XM_011535120.1:c.1941+101_1941+102insGC	XP_011533422.1:n.1941+101_1941+102insGC
XM_011535121.1:c.2355+101_2355+102insGC	XP_011533423.1:n.2355+101_2355+102insGC
XM_011535122.1:c.1023+101_1023+102insGC	XP_011533424.1:n.1023+101_1023+102insGC
XR_941601.1:n.2574+101_2574+102insGC
XR_941602.1:n.2574+101_2574+102insGC
XR_941603.1:n.2574+101_2574+102insGC
XR_941604.1:n.2574+101_2574+102insGC
NM_001330578.1:c.2122-603_2122-602insGC	NP_001317507.1:n.2122-603_2122-602insGC
NM_001330579.1:c.2103+101_2103+102insGC	NP_001317508.1:n.2103+101_2103+102insGC
XM_005266424.4:c.2259+101_2259+102insGC	XP_005266481.1:n.2259+101_2259+102insGC
XM_005266430.4:c.2355+101_2355+102insGC	XP_005266487.1:n.2355+101_2355+102insGC
XM_005266431.4:c.2319+101_2319+102insGC	XP_005266488.1:n.2319+101_2319+102insGC
XM_006719837.3:c.2259+101_2259+102insGC	XP_006719900.1:n.2259+101_2259+102insGC
XM_011535117.3:c.2259+101_2259+102insGC	XP_011533419.1:n.2259+101_2259+102insGC
XM_017020627.1:c.2259+101_2259+102insGC	XP_016876116.1:n.2259+101_2259+102insGC
NM_000053.4:c.2355+101_2355+102insGC MANE Select	NP_000044.2:n.2355+101_2355+102insGC
NM_001005918.3:c.1870-603_1870-602insGC	NP_001005918.1:n.1870-603_1870-602insGC
NM_001330579.2:c.2103+101_2103+102insGC	NP_001317508.1:n.2103+101_2103+102insGC
NM_001243182.2:c.2022+101_2022+102insGC	NP_001230111.1:n.2022+101_2022+102insGC
NM_001330578.2:c.2122-603_2122-602insGC	NP_001317507.1:n.2122-603_2122-602insGC