Canonical Allele Identifier: CA2695218755

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944267_51944270delinsCG , CM000675.2:g.51944267_51944270delinsCG	GRCh38
NC_000013.10:g.52518403_52518406delinsCG , CM000675.1:g.52518403_52518406delinsCG	GRCh37
NC_000013.9:g.51416404_51416407delinsCG	NCBI36
NG_008806.1:g.72225_72228delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1716_*894-1713delinsCG	ENSP00000489512.2:n.*894-1716_*894-1713delinsCG
ENST00000673864.2:c.*1826_*1829delinsCG	ENSP00000501045.2:n.*1826_*1829delinsCG
ENST00000674147.2:c.2461_2464delinsCG	ENSP00000500964.2:p.Lys821ArgfsTer?
ENST00000242839.10:c.3082_3085delinsCG MANE Select	ENSP00000242839.5:p.Lys1028ArgfsTer?
ENST00000344297.9:c.2461_2464delinsCG	ENSP00000342559.5:p.Lys821ArgfsTer?
ENST00000400366.6:c.2749_2752delinsCG	ENSP00000383217.3:p.Lys917ArgfsTer?
ENST00000448424.7:c.2830_2833delinsCG	ENSP00000416738.3:p.Lys944ArgfsTer?
ENST00000673772.1:c.2848_2851delinsCG	ENSP00000501168.1:p.Lys950ArgfsTer?
ENST00000673867.1:n.3221_3224delinsCG
ENST00000674126.1:n.3445_3448delinsCG
ENST00000674147.1:c.2017_2020delinsCG	ENSP00000500964.1:p.Lys673ArgfsTer?
ENST00000242839.8:c.3082_3085delinsCG	ENSP00000242839.4:p.Lys1028ArgfsTer?
ENST00000344297.8:c.2461_2464delinsCG	ENSP00000342559.5:p.Lys821ArgfsTer?
ENST00000400366.5:c.2749_2752delinsCG	ENSP00000383217.3:p.Lys917ArgfsTer?
ENST00000400370.8:c.1792_1795delinsCG	ENSP00000383221.3:p.Lys598ArgfsTer?
ENST00000418097.7:c.2887_2890delinsCG	ENSP00000393343.2:p.Lys963ArgfsTer?
ENST00000448424.6:c.2848_2851delinsCG	ENSP00000416738.2:p.Lys950ArgfsTer?
ENST00000466629.1:n.302_305delinsCG
ENST00000634296.1:c.1022-1716_1022-1713delinsCG
ENST00000634308.1:c.*183_*186delinsCG	ENSP00000489234.1:n.*183_*186delinsCG
ENST00000634620.1:n.3826_3829delinsCG
ENST00000634810.1:n.2427_2430delinsCG
ENST00000634844.1:c.2938_2941delinsCG	ENSP00000489398.1:p.Lys980ArgfsTer?
ENST00000635406.1:n.428_431delinsCG
NM_000053.3:c.3082_3085delinsCG	NP_000044.2:p.Lys1028ArgfsTer?
NM_001005918.2:c.2461_2464delinsCG	NP_001005918.1:p.Lys821ArgfsTer?
NM_001243182.1:c.2749_2752delinsCG	NP_001230111.1:p.Lys917ArgfsTer?
XM_005266423.2:c.2986_2989delinsCG	XP_005266480.1:p.Lys996ArgfsTer?
XM_005266424.3:c.2986_2989delinsCG	XP_005266481.1:p.Lys996ArgfsTer?
XM_005266427.2:c.2848_2851delinsCG	XP_005266484.1:p.Lys950ArgfsTer?
XM_005266428.1:c.2830_2833delinsCG	XP_005266485.1:p.Lys944ArgfsTer?
XM_005266430.3:c.3082_3085delinsCG	XP_005266487.1:p.Lys1028ArgfsTer?
XM_005266431.2:c.3046_3049delinsCG	XP_005266488.1:p.Lys1016ArgfsTer?
XM_005266432.2:c.2596_2599delinsCG	XP_005266489.1:p.Lys866ArgfsTer?
XM_006719837.2:c.2986_2989delinsCG	XP_006719900.1:p.Lys996ArgfsTer?
XM_006719838.1:c.898_901delinsCG	XP_006719901.1:p.Lys300ArgfsTer?
XM_006719839.1:c.877-1716_877-1713delinsCG	XP_006719902.1:n.877-1716_877-1713delinsCG
XM_011535117.1:c.2986_2989delinsCG	XP_011533419.1:p.Lys996ArgfsTer?
XM_011535118.1:c.2947_2950delinsCG	XP_011533420.1:p.Lys983ArgfsTer?
XM_011535119.1:c.3061-1716_3061-1713delinsCG	XP_011533421.1:n.3061-1716_3061-1713delinsCG
XM_011535120.1:c.2668_2671delinsCG	XP_011533422.1:p.Lys890ArgfsTer?
XM_011535121.1:c.2731-1716_2731-1713delinsCG	XP_011533423.1:n.2731-1716_2731-1713delinsCG
XM_011535122.1:c.1750_1753delinsCG	XP_011533424.1:p.Lys584ArgfsTer?
XR_941601.1:n.3301_3304delinsCG
XR_941602.1:n.3301_3304delinsCG
XR_941603.1:n.3301_3304delinsCG
XR_941604.1:n.3301_3304delinsCG
NM_001330578.1:c.2848_2851delinsCG	NP_001317507.1:p.Lys950ArgfsTer?
NM_001330579.1:c.2830_2833delinsCG	NP_001317508.1:p.Lys944ArgfsTer?
XM_005266424.4:c.2986_2989delinsCG	XP_005266481.1:p.Lys996ArgfsTer?
XM_005266430.4:c.3082_3085delinsCG	XP_005266487.1:p.Lys1028ArgfsTer?
XM_005266431.4:c.3046_3049delinsCG	XP_005266488.1:p.Lys1016ArgfsTer?
XM_006719837.3:c.2986_2989delinsCG	XP_006719900.1:p.Lys996ArgfsTer?
XM_011535117.3:c.2986_2989delinsCG	XP_011533419.1:p.Lys996ArgfsTer?
XM_017020627.1:c.2986_2989delinsCG	XP_016876116.1:p.Lys996ArgfsTer?
NM_000053.4:c.3082_3085delinsCG MANE Select	NP_000044.2:p.Lys1028ArgfsTer?
NM_001005918.3:c.2461_2464delinsCG	NP_001005918.1:p.Lys821ArgfsTer?
NM_001330579.2:c.2830_2833delinsCG	NP_001317508.1:p.Lys944ArgfsTer?
NM_001243182.2:c.2749_2752delinsCG	NP_001230111.1:p.Lys917ArgfsTer?
NM_001330578.2:c.2848_2851delinsCG	NP_001317507.1:p.Lys950ArgfsTer?