Canonical Allele Identifier: CA250077096

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2137513
• ClinVar RCV Id: RCV003062592 ; RCV003481369
• dbSNP Id: rs765139243
• gnomAD v2: 13-52515224-AGC-A
• gnomAD v3: 13-51941088-AGC-A
• gnomAD v4: 13-51941088-AGC-A
• MyVariant Identifiers: chr13:g.52515225_52515226del (hg19) ; chr13:g.51941089_51941090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941089_51941090del , CM000675.2:g.51941089_51941090del	GRCh38
NC_000013.10:g.52515225_52515226del , CM000675.1:g.52515225_52515226del	GRCh37
NC_000013.9:g.51413226_51413227del	NCBI36
NG_008806.1:g.75405_75406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1197_*1198del	ENSP00000489512.2:n.*1197_*1198del
ENST00000673864.2:c.*2291_*2292del	ENSP00000501045.2:n.*2291_*2292del
ENST00000674147.2:c.2926_2927del	ENSP00000500964.2:p.Ala976TyrfsTer2
ENST00000242839.10:c.3547_3548del MANE Select	ENSP00000242839.5:p.Ala1183TyrfsTer2
ENST00000344297.9:c.2926_2927del	ENSP00000342559.5:p.Ala976TyrfsTer2
ENST00000400366.6:c.3214_3215del	ENSP00000383217.3:p.Ala1072TyrfsTer2
ENST00000448424.7:c.3295_3296del	ENSP00000416738.3:p.Ala1099TyrfsTer2
ENST00000673772.1:c.3313_3314del	ENSP00000501168.1:p.Ala1105TyrfsTer2
ENST00000673867.1:n.3686_3687del
ENST00000674126.1:n.3910_3911del
ENST00000674147.1:c.2482_2483del	ENSP00000500964.1:p.Ala828TyrfsTer2
ENST00000242839.8:c.3547_3548del	ENSP00000242839.4:p.Ala1183TyrfsTer2
ENST00000344297.8:c.2926_2927del	ENSP00000342559.5:p.Ala976TyrfsTer2
ENST00000400366.5:c.3214_3215del	ENSP00000383217.3:p.Ala1072TyrfsTer2
ENST00000400370.8:c.2257_2258del	ENSP00000383221.3:p.Ala753TyrfsTer2
ENST00000418097.7:c.3352_3353del	ENSP00000393343.2:p.Ala1118TyrfsTer2
ENST00000448424.6:c.3313_3314del	ENSP00000416738.2:p.Ala1105TyrfsTer2
ENST00000634296.1:c.1325_1326del
ENST00000634308.1:c.*648_*649del	ENSP00000489234.1:n.*648_*649del
ENST00000634620.1:n.4291_4292del
ENST00000634810.1:n.2892_2893del
ENST00000634844.1:c.3403_3404del	ENSP00000489398.1:p.Ala1135TyrfsTer2
NM_000053.3:c.3547_3548del	NP_000044.2:p.Ala1183TyrfsTer2
NM_001005918.2:c.2926_2927del	NP_001005918.1:p.Ala976TyrfsTer2
NM_001243182.1:c.3214_3215del	NP_001230111.1:p.Ala1072TyrfsTer2
XM_005266423.2:c.3451_3452del	XP_005266480.1:p.Ala1151TyrfsTer2
XM_005266424.3:c.3451_3452del	XP_005266481.1:p.Ala1151TyrfsTer2
XM_005266427.2:c.3313_3314del	XP_005266484.1:p.Ala1105TyrfsTer2
XM_005266428.1:c.3295_3296del	XP_005266485.1:p.Ala1099TyrfsTer2
XM_005266430.3:c.3547_3548del	XP_005266487.1:p.Ala1183TyrfsTer2
XM_005266431.2:c.3511_3512del	XP_005266488.1:p.Ala1171TyrfsTer2
XM_005266432.2:c.3061_3062del	XP_005266489.1:p.Ala1021TyrfsTer2
XM_006719837.2:c.3451_3452del	XP_006719900.1:p.Ala1151TyrfsTer2
XM_006719838.1:c.1363_1364del	XP_006719901.1:p.Ala455TyrfsTer2
XM_006719839.1:c.1180_1181del	XP_006719902.1:p.Ala394TyrfsTer2
XM_011535117.1:c.3451_3452del	XP_011533419.1:p.Ala1151TyrfsTer2
XM_011535118.1:c.3412_3413del	XP_011533420.1:p.Ala1138TyrfsTer2
XM_011535119.1:c.3364_3365del	XP_011533421.1:p.Ala1122TyrfsTer2
XM_011535120.1:c.3133_3134del	XP_011533422.1:p.Ala1045TyrfsTer2
XM_011535121.1:c.3034_3035del	XP_011533423.1:p.Ala1012TyrfsTer2
XM_011535122.1:c.2215_2216del	XP_011533424.1:p.Ala739TyrfsTer2
XR_941601.1:n.3766_3767del
XR_941602.1:n.3766_3767del
XR_941603.1:n.3766_3767del
XR_941604.1:n.3766_3767del
NM_001330578.1:c.3313_3314del	NP_001317507.1:p.Ala1105TyrfsTer2
NM_001330579.1:c.3295_3296del	NP_001317508.1:p.Ala1099TyrfsTer2
XM_005266424.4:c.3451_3452del	XP_005266481.1:p.Ala1151TyrfsTer2
XM_005266430.4:c.3547_3548del	XP_005266487.1:p.Ala1183TyrfsTer2
XM_005266431.4:c.3511_3512del	XP_005266488.1:p.Ala1171TyrfsTer2
XM_006719837.3:c.3451_3452del	XP_006719900.1:p.Ala1151TyrfsTer2
XM_011535117.3:c.3451_3452del	XP_011533419.1:p.Ala1151TyrfsTer2
XM_017020627.1:c.3451_3452del	XP_016876116.1:p.Ala1151TyrfsTer2
NM_000053.4:c.3547_3548del MANE Select	NP_000044.2:p.Ala1183TyrfsTer2
NM_001005918.3:c.2926_2927del	NP_001005918.1:p.Ala976TyrfsTer2
NM_001330579.2:c.3295_3296del	NP_001317508.1:p.Ala1099TyrfsTer2
NM_001243182.2:c.3214_3215del	NP_001230111.1:p.Ala1072TyrfsTer2
NM_001330578.2:c.3313_3314del	NP_001317507.1:p.Ala1105TyrfsTer2