Canonical Allele Identifier: CA250077296

Gene: ATP7B

Linked Data

• dbSNP Id: rs867501285
• gnomAD v2: 13-52515348-T-TG
• gnomAD v4: 13-51941212-T-TG
• MyVariant Identifiers: chr13:g.52515348_52515349insG (hg19) ; chr13:g.51941212_51941213insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941217dup , CM000675.2:g.51941217dup	GRCh38
NC_000013.10:g.52515353dup , CM000675.1:g.52515353dup	GRCh37
NC_000013.9:g.51413354dup	NCBI36
NG_008806.1:g.75282dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1074dup	ENSP00000489512.2:n.*1074dup
ENST00000673864.2:c.*2168dup	ENSP00000501045.2:n.*2168dup
ENST00000674147.2:c.2803dup	ENSP00000500964.2:p.Gln935ProfsTer11
ENST00000242839.10:c.3424dup MANE Select	ENSP00000242839.5:p.Gln1142ProfsTer11
ENST00000344297.9:c.2803dup	ENSP00000342559.5:p.Gln935ProfsTer11
ENST00000400366.6:c.3091dup	ENSP00000383217.3:p.Gln1031ProfsTer11
ENST00000448424.7:c.3172dup	ENSP00000416738.3:p.Gln1058ProfsTer11
ENST00000673772.1:c.3190dup	ENSP00000501168.1:p.Gln1064ProfsTer11
ENST00000673867.1:n.3563dup
ENST00000674126.1:n.3787dup
ENST00000674147.1:c.2359dup	ENSP00000500964.1:p.Gln787ProfsTer11
ENST00000242839.8:c.3424dup	ENSP00000242839.4:p.Gln1142ProfsTer11
ENST00000344297.8:c.2803dup	ENSP00000342559.5:p.Gln935ProfsTer11
ENST00000400366.5:c.3091dup	ENSP00000383217.3:p.Gln1031ProfsTer11
ENST00000400370.8:c.2134dup	ENSP00000383221.3:p.Gln712ProfsTer11
ENST00000418097.7:c.3229dup	ENSP00000393343.2:p.Gln1077ProfsTer11
ENST00000448424.6:c.3190dup	ENSP00000416738.2:p.Gln1064ProfsTer11
ENST00000634296.1:c.1202dup
ENST00000634308.1:c.*525dup	ENSP00000489234.1:n.*525dup
ENST00000634620.1:n.4168dup
ENST00000634810.1:n.2769dup
ENST00000634844.1:c.3280dup	ENSP00000489398.1:p.Gln1094ProfsTer11
NM_000053.3:c.3424dup	NP_000044.2:p.Gln1142ProfsTer11
NM_001005918.2:c.2803dup	NP_001005918.1:p.Gln935ProfsTer11
NM_001243182.1:c.3091dup	NP_001230111.1:p.Gln1031ProfsTer11
XM_005266423.2:c.3328dup	XP_005266480.1:p.Gln1110ProfsTer11
XM_005266424.3:c.3328dup	XP_005266481.1:p.Gln1110ProfsTer11
XM_005266427.2:c.3190dup	XP_005266484.1:p.Gln1064ProfsTer11
XM_005266428.1:c.3172dup	XP_005266485.1:p.Gln1058ProfsTer11
XM_005266430.3:c.3424dup	XP_005266487.1:p.Gln1142ProfsTer11
XM_005266431.2:c.3388dup	XP_005266488.1:p.Gln1130ProfsTer11
XM_005266432.2:c.2938dup	XP_005266489.1:p.Gln980ProfsTer11
XM_006719837.2:c.3328dup	XP_006719900.1:p.Gln1110ProfsTer11
XM_006719838.1:c.1240dup	XP_006719901.1:p.Gln414ProfsTer11
XM_006719839.1:c.1057dup	XP_006719902.1:p.Gln353ProfsTer11
XM_011535117.1:c.3328dup	XP_011533419.1:p.Gln1110ProfsTer11
XM_011535118.1:c.3289dup	XP_011533420.1:p.Gln1097ProfsTer11
XM_011535119.1:c.3241dup	XP_011533421.1:p.Gln1081ProfsTer11
XM_011535120.1:c.3010dup	XP_011533422.1:p.Gln1004ProfsTer11
XM_011535121.1:c.2911dup	XP_011533423.1:p.Gln971ProfsTer11
XM_011535122.1:c.2092dup	XP_011533424.1:p.Gln698ProfsTer11
XR_941601.1:n.3643dup
XR_941602.1:n.3643dup
XR_941603.1:n.3643dup
XR_941604.1:n.3643dup
NM_001330578.1:c.3190dup	NP_001317507.1:p.Gln1064ProfsTer11
NM_001330579.1:c.3172dup	NP_001317508.1:p.Gln1058ProfsTer11
XM_005266424.4:c.3328dup	XP_005266481.1:p.Gln1110ProfsTer11
XM_005266430.4:c.3424dup	XP_005266487.1:p.Gln1142ProfsTer11
XM_005266431.4:c.3388dup	XP_005266488.1:p.Gln1130ProfsTer11
XM_006719837.3:c.3328dup	XP_006719900.1:p.Gln1110ProfsTer11
XM_011535117.3:c.3328dup	XP_011533419.1:p.Gln1110ProfsTer11
XM_017020627.1:c.3328dup	XP_016876116.1:p.Gln1110ProfsTer11
NM_000053.4:c.3424dup MANE Select	NP_000044.2:p.Gln1142ProfsTer11
NM_001005918.3:c.2803dup	NP_001005918.1:p.Gln935ProfsTer11
NM_001330579.2:c.3172dup	NP_001317508.1:p.Gln1058ProfsTer11
NM_001243182.2:c.3091dup	NP_001230111.1:p.Gln1031ProfsTer11
NM_001330578.2:c.3190dup	NP_001317507.1:p.Gln1064ProfsTer11