Canonical Allele Identifier: CA2499222492

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1163545
• ClinVar RCV Id: RCV001508713
• dbSNP Id: rs1331370011

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944267_51944269delinsG , CM000675.2:g.51944267_51944269delinsG	GRCh38
NC_000013.10:g.52518403_52518405delinsG , CM000675.1:g.52518403_52518405delinsG	GRCh37
NC_000013.9:g.51416404_51416406delinsG	NCBI36
NG_008806.1:g.72226_72228delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1715_*894-1713delinsC	ENSP00000489512.2:n.*894-1715_*894-1713delinsC
ENST00000673864.2:c.*1827_*1829delinsC	ENSP00000501045.2:n.*1827_*1829delinsC
ENST00000674147.2:c.2462_2464delinsC	ENSP00000500964.2:p.Lys821ThrfsTer?
ENST00000242839.10:c.3083_3085delinsC MANE Select	ENSP00000242839.5:p.Lys1028ThrfsTer?
ENST00000344297.9:c.2462_2464delinsC	ENSP00000342559.5:p.Lys821ThrfsTer?
ENST00000400366.6:c.2750_2752delinsC	ENSP00000383217.3:p.Lys917ThrfsTer?
ENST00000448424.7:c.2831_2833delinsC	ENSP00000416738.3:p.Lys944ThrfsTer?
ENST00000673772.1:c.2849_2851delinsC	ENSP00000501168.1:p.Lys950ThrfsTer?
ENST00000673867.1:n.3222_3224delinsC
ENST00000674126.1:n.3446_3448delinsC
ENST00000674147.1:c.2018_2020delinsC	ENSP00000500964.1:p.Lys673ThrfsTer?
ENST00000242839.8:c.3083_3085delinsC	ENSP00000242839.4:p.Lys1028ThrfsTer?
ENST00000344297.8:c.2462_2464delinsC	ENSP00000342559.5:p.Lys821ThrfsTer?
ENST00000400366.5:c.2750_2752delinsC	ENSP00000383217.3:p.Lys917ThrfsTer?
ENST00000400370.8:c.1793_1795delinsC	ENSP00000383221.3:p.Lys598ThrfsTer?
ENST00000418097.7:c.2888_2890delinsC	ENSP00000393343.2:p.Lys963ThrfsTer?
ENST00000448424.6:c.2849_2851delinsC	ENSP00000416738.2:p.Lys950ThrfsTer?
ENST00000466629.1:n.303_305delinsC
ENST00000634296.1:c.1022-1715_1022-1713delinsC
ENST00000634308.1:c.*184_*186delinsC	ENSP00000489234.1:n.*184_*186delinsC
ENST00000634620.1:n.3827_3829delinsC
ENST00000634810.1:n.2428_2430delinsC
ENST00000634844.1:c.2939_2941delinsC	ENSP00000489398.1:p.Lys980ThrfsTer?
ENST00000635406.1:n.429_431delinsC
NM_000053.3:c.3083_3085delinsC	NP_000044.2:p.Lys1028ThrfsTer?
NM_001005918.2:c.2462_2464delinsC	NP_001005918.1:p.Lys821ThrfsTer?
NM_001243182.1:c.2750_2752delinsC	NP_001230111.1:p.Lys917ThrfsTer?
XM_005266423.2:c.2987_2989delinsC	XP_005266480.1:p.Lys996ThrfsTer?
XM_005266424.3:c.2987_2989delinsC	XP_005266481.1:p.Lys996ThrfsTer?
XM_005266427.2:c.2849_2851delinsC	XP_005266484.1:p.Lys950ThrfsTer?
XM_005266428.1:c.2831_2833delinsC	XP_005266485.1:p.Lys944ThrfsTer?
XM_005266430.3:c.3083_3085delinsC	XP_005266487.1:p.Lys1028ThrfsTer?
XM_005266431.2:c.3047_3049delinsC	XP_005266488.1:p.Lys1016ThrfsTer?
XM_005266432.2:c.2597_2599delinsC	XP_005266489.1:p.Lys866ThrfsTer?
XM_006719837.2:c.2987_2989delinsC	XP_006719900.1:p.Lys996ThrfsTer?
XM_006719838.1:c.899_901delinsC	XP_006719901.1:p.Lys300ThrfsTer?
XM_006719839.1:c.877-1715_877-1713delinsC	XP_006719902.1:n.877-1715_877-1713delinsC
XM_011535117.1:c.2987_2989delinsC	XP_011533419.1:p.Lys996ThrfsTer?
XM_011535118.1:c.2948_2950delinsC	XP_011533420.1:p.Lys983ThrfsTer?
XM_011535119.1:c.3061-1715_3061-1713delinsC	XP_011533421.1:n.3061-1715_3061-1713delinsC
XM_011535120.1:c.2669_2671delinsC	XP_011533422.1:p.Lys890ThrfsTer?
XM_011535121.1:c.2731-1715_2731-1713delinsC	XP_011533423.1:n.2731-1715_2731-1713delinsC
XM_011535122.1:c.1751_1753delinsC	XP_011533424.1:p.Lys584ThrfsTer?
XR_941601.1:n.3302_3304delinsC
XR_941602.1:n.3302_3304delinsC
XR_941603.1:n.3302_3304delinsC
XR_941604.1:n.3302_3304delinsC
NM_001330578.1:c.2849_2851delinsC	NP_001317507.1:p.Lys950ThrfsTer?
NM_001330579.1:c.2831_2833delinsC	NP_001317508.1:p.Lys944ThrfsTer?
XM_005266424.4:c.2987_2989delinsC	XP_005266481.1:p.Lys996ThrfsTer?
XM_005266430.4:c.3083_3085delinsC	XP_005266487.1:p.Lys1028ThrfsTer?
XM_005266431.4:c.3047_3049delinsC	XP_005266488.1:p.Lys1016ThrfsTer?
XM_006719837.3:c.2987_2989delinsC	XP_006719900.1:p.Lys996ThrfsTer?
XM_011535117.3:c.2987_2989delinsC	XP_011533419.1:p.Lys996ThrfsTer?
XM_017020627.1:c.2987_2989delinsC	XP_016876116.1:p.Lys996ThrfsTer?
NM_000053.4:c.3083_3085delinsC MANE Select	NP_000044.2:p.Lys1028ThrfsTer?
NM_001005918.3:c.2462_2464delinsC	NP_001005918.1:p.Lys821ThrfsTer?
NM_001330579.2:c.2831_2833delinsC	NP_001317508.1:p.Lys944ThrfsTer?
NM_001243182.2:c.2750_2752delinsC	NP_001230111.1:p.Lys917ThrfsTer?
NM_001330578.2:c.2849_2851delinsC	NP_001317507.1:p.Lys950ThrfsTer?