Canonical Allele Identifier: CA2741321262

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965024_51965025insGCCG , CM000675.2:g.51965024_51965025insGCCG	GRCh38
NC_000013.10:g.52539160_52539161insGCCG , CM000675.1:g.52539160_52539161insGCCG	GRCh37
NC_000013.9:g.51437161_51437162insGCCG	NCBI36
NG_008806.1:g.51470_51471insCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1716_1717insCGGC	ENSP00000489512.2:p.Met573ArgfsTer?
ENST00000673864.2:c.*460_*461insCGGC	ENSP00000501045.2:n.*460_*461insCGGC
ENST00000674147.2:c.1716_1717insCGGC	ENSP00000500964.2:p.Met573ArgfsTer?
ENST00000242839.10:c.1716_1717insCGGC MANE Select	ENSP00000242839.5:p.Met573ArgfsTer?
ENST00000344297.9:c.1716_1717insCGGC	ENSP00000342559.5:p.Met573ArgfsTer?
ENST00000400366.6:c.1383_1384insCGGC	ENSP00000383217.3:p.Met462ArgfsTer?
ENST00000448424.7:c.1716_1717insCGGC	ENSP00000416738.3:p.Met573ArgfsTer?
ENST00000483772.2:n.472_473insCGGC
ENST00000673772.1:c.1716_1717insCGGC	ENSP00000501168.1:p.Met573ArgfsTer?
ENST00000673864.1:c.910_911insCGGC	ENSP00000501045.1:n.910_911insCGGC
ENST00000674147.1:c.1272_1273insCGGC	ENSP00000500964.1:p.Met425ArgfsTer?
ENST00000242839.8:c.1716_1717insCGGC	ENSP00000242839.4:p.Met573ArgfsTer?
ENST00000344297.8:c.1716_1717insCGGC	ENSP00000342559.5:p.Met573ArgfsTer?
ENST00000400366.5:c.1383_1384insCGGC	ENSP00000383217.3:p.Met462ArgfsTer?
ENST00000400370.8:c.1285+8910_1285+8911insCGGC	ENSP00000383221.3:n.1285+8910_1285+8911insCGGC
ENST00000418097.7:c.1716_1717insCGGC	ENSP00000393343.2:p.Met573ArgfsTer?
ENST00000448424.6:c.1716_1717insCGGC	ENSP00000416738.2:p.Met573ArgfsTer?
ENST00000482841.6:n.1664+5467_1664+5468insCGGC
ENST00000483772.1:n.472_473insCGGC
ENST00000634308.1:c.1716_1717insCGGC	ENSP00000489234.1:p.Met573ArgfsTer?
ENST00000634620.1:n.208_209insCGGC
ENST00000634844.1:c.1716_1717insCGGC	ENSP00000489398.1:p.Met573ArgfsTer?
ENST00000635406.1:n.212-18547_212-18546insCGGC
NM_000053.3:c.1716_1717insCGGC	NP_000044.2:p.Met573ArgfsTer?
NM_001005918.2:c.1716_1717insCGGC	NP_001005918.1:p.Met573ArgfsTer?
NM_001243182.1:c.1383_1384insCGGC	NP_001230111.1:p.Met462ArgfsTer?
XM_005266423.2:c.1620_1621insCGGC	XP_005266480.1:p.Met541ArgfsTer?
XM_005266424.3:c.1620_1621insCGGC	XP_005266481.1:p.Met541ArgfsTer?
XM_005266427.2:c.1716_1717insCGGC	XP_005266484.1:p.Met573ArgfsTer?
XM_005266428.1:c.1716_1717insCGGC	XP_005266485.1:p.Met573ArgfsTer?
XM_005266430.3:c.1716_1717insCGGC	XP_005266487.1:p.Met573ArgfsTer?
XM_005266431.2:c.1680_1681insCGGC	XP_005266488.1:p.Met561ArgfsTer?
XM_005266432.2:c.1716_1717insCGGC	XP_005266489.1:p.Met573ArgfsTer?
XM_006719837.2:c.1620_1621insCGGC	XP_006719900.1:p.Met541ArgfsTer?
XM_011535117.1:c.1620_1621insCGGC	XP_011533419.1:p.Met541ArgfsTer?
XM_011535118.1:c.1716_1717insCGGC	XP_011533420.1:p.Met573ArgfsTer?
XM_011535119.1:c.1716_1717insCGGC	XP_011533421.1:p.Met573ArgfsTer?
XM_011535120.1:c.1707+3419_1707+3420insCGGC	XP_011533422.1:n.1707+3419_1707+3420insCGGC
XM_011535121.1:c.1716_1717insCGGC	XP_011533423.1:p.Met573ArgfsTer?
XM_011535122.1:c.384_385insCGGC	XP_011533424.1:p.Met129ArgfsTer?
XR_941601.1:n.1935_1936insCGGC
XR_941602.1:n.1935_1936insCGGC
XR_941603.1:n.1935_1936insCGGC
XR_941604.1:n.1935_1936insCGGC
NM_001330578.1:c.1716_1717insCGGC	NP_001317507.1:p.Met573ArgfsTer?
NM_001330579.1:c.1716_1717insCGGC	NP_001317508.1:p.Met573ArgfsTer?
XM_005266424.4:c.1620_1621insCGGC	XP_005266481.1:p.Met541ArgfsTer?
XM_005266430.4:c.1716_1717insCGGC	XP_005266487.1:p.Met573ArgfsTer?
XM_005266431.4:c.1680_1681insCGGC	XP_005266488.1:p.Met561ArgfsTer?
XM_006719837.3:c.1620_1621insCGGC	XP_006719900.1:p.Met541ArgfsTer?
XM_011535117.3:c.1620_1621insCGGC	XP_011533419.1:p.Met541ArgfsTer?
XM_017020627.1:c.1620_1621insCGGC	XP_016876116.1:p.Met541ArgfsTer?
NM_000053.4:c.1716_1717insCGGC MANE Select	NP_000044.2:p.Met573ArgfsTer?
NM_001005918.3:c.1716_1717insCGGC	NP_001005918.1:p.Met573ArgfsTer?
NM_001330579.2:c.1716_1717insCGGC	NP_001317508.1:p.Met573ArgfsTer?
NM_001243182.2:c.1383_1384insCGGC	NP_001230111.1:p.Met462ArgfsTer?
NM_001330578.2:c.1716_1717insCGGC	NP_001317507.1:p.Met573ArgfsTer?