Canonical Allele Identifier: CA2695199746

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679815
• ClinVar RCV Id: RCV003464953

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958424_51958425insCT , CM000675.2:g.51958424_51958425insCT	GRCh38
NC_000013.10:g.52532560_52532561insCT , CM000675.1:g.52532560_52532561insCT	GRCh37
NC_000013.9:g.51430561_51430562insCT	NCBI36
NG_008806.1:g.58070_58071insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*74_*75insAG	ENSP00000489512.2:n.*74_*75insAG
ENST00000673864.2:c.*985_*986insAG	ENSP00000501045.2:n.*985_*986insAG
ENST00000674147.2:c.1870-818_1870-817insAG	ENSP00000500964.2:n.1870-818_1870-817insAG
ENST00000242839.10:c.2241_2242insAG MANE Select	ENSP00000242839.5:p.Leu748SerfsTer15
ENST00000344297.9:c.1870-818_1870-817insAG	ENSP00000342559.5:n.1870-818_1870-817insAG
ENST00000400366.6:c.1908_1909insAG	ENSP00000383217.3:p.Leu637SerfsTer15
ENST00000448424.7:c.1989_1990insAG	ENSP00000416738.3:p.Leu664SerfsTer15
ENST00000673772.1:c.2122-818_2122-817insAG	ENSP00000501168.1:n.2122-818_2122-817insAG
ENST00000674147.1:c.1426-818_1426-817insAG	ENSP00000500964.1:n.1426-818_1426-817insAG
ENST00000242839.8:c.2241_2242insAG	ENSP00000242839.4:p.Leu748SerfsTer15
ENST00000344297.8:c.1870-818_1870-817insAG	ENSP00000342559.5:n.1870-818_1870-817insAG
ENST00000400366.5:c.1908_1909insAG	ENSP00000383217.3:p.Leu637SerfsTer15
ENST00000400370.8:c.1286-8264_1286-8263insAG	ENSP00000383221.3:n.1286-8264_1286-8263insAG
ENST00000418097.7:c.2241_2242insAG	ENSP00000393343.2:p.Leu748SerfsTer15
ENST00000448424.6:c.2122-818_2122-817insAG	ENSP00000416738.2:n.2122-818_2122-817insAG
ENST00000482841.6:n.1784_1785insAG
ENST00000634296.1:c.202_203insAG
ENST00000634308.1:c.2122-818_2122-817insAG	ENSP00000489234.1:n.2122-818_2122-817insAG
ENST00000634620.1:n.2336_2337insAG
ENST00000634810.1:n.1586_1587insAG
ENST00000634844.1:c.2122-25_2122-24insAG	ENSP00000489398.1:n.2122-25_2122-24insAG
ENST00000635406.1:n.212-11947_212-11946insAG
NM_000053.3:c.2241_2242insAG	NP_000044.2:p.Leu748SerfsTer15
NM_001005918.2:c.1870-818_1870-817insAG	NP_001005918.1:n.1870-818_1870-817insAG
NM_001243182.1:c.1908_1909insAG	NP_001230111.1:p.Leu637SerfsTer15
XM_005266423.2:c.2145_2146insAG	XP_005266480.1:p.Leu716SerfsTer15
XM_005266424.3:c.2145_2146insAG	XP_005266481.1:p.Leu716SerfsTer15
XM_005266427.2:c.2122-818_2122-817insAG	XP_005266484.1:n.2122-818_2122-817insAG
XM_005266428.1:c.1989_1990insAG	XP_005266485.1:p.Leu664SerfsTer15
XM_005266430.3:c.2241_2242insAG	XP_005266487.1:p.Leu748SerfsTer15
XM_005266431.2:c.2205_2206insAG	XP_005266488.1:p.Leu736SerfsTer15
XM_005266432.2:c.1870-818_1870-817insAG	XP_005266489.1:n.1870-818_1870-817insAG
XM_006719837.2:c.2145_2146insAG	XP_006719900.1:p.Leu716SerfsTer15
XM_006719838.1:c.57_58insAG	XP_006719901.1:p.Leu20SerfsTer15
XM_006719839.1:c.57_58insAG	XP_006719902.1:p.Leu20SerfsTer15
XM_011535117.1:c.2145_2146insAG	XP_011533419.1:p.Leu716SerfsTer15
XM_011535118.1:c.2241_2242insAG	XP_011533420.1:p.Leu748SerfsTer15
XM_011535119.1:c.2241_2242insAG	XP_011533421.1:p.Leu748SerfsTer15
XM_011535120.1:c.1827_1828insAG	XP_011533422.1:p.Leu610SerfsTer15
XM_011535121.1:c.2241_2242insAG	XP_011533423.1:p.Leu748SerfsTer15
XM_011535122.1:c.909_910insAG	XP_011533424.1:p.Leu304SerfsTer15
XR_941601.1:n.2460_2461insAG
XR_941602.1:n.2460_2461insAG
XR_941603.1:n.2460_2461insAG
XR_941604.1:n.2460_2461insAG
NM_001330578.1:c.2122-818_2122-817insAG	NP_001317507.1:n.2122-818_2122-817insAG
NM_001330579.1:c.1989_1990insAG	NP_001317508.1:p.Leu664SerfsTer15
XM_005266424.4:c.2145_2146insAG	XP_005266481.1:p.Leu716SerfsTer15
XM_005266430.4:c.2241_2242insAG	XP_005266487.1:p.Leu748SerfsTer15
XM_005266431.4:c.2205_2206insAG	XP_005266488.1:p.Leu736SerfsTer15
XM_006719837.3:c.2145_2146insAG	XP_006719900.1:p.Leu716SerfsTer15
XM_011535117.3:c.2145_2146insAG	XP_011533419.1:p.Leu716SerfsTer15
XM_017020627.1:c.2145_2146insAG	XP_016876116.1:p.Leu716SerfsTer15
NM_000053.4:c.2241_2242insAG MANE Select	NP_000044.2:p.Leu748SerfsTer15
NM_001005918.3:c.1870-818_1870-817insAG	NP_001005918.1:n.1870-818_1870-817insAG
NM_001330579.2:c.1989_1990insAG	NP_001317508.1:p.Leu664SerfsTer15
NM_001243182.2:c.1908_1909insAG	NP_001230111.1:p.Leu637SerfsTer15
NM_001330578.2:c.2122-818_2122-817insAG	NP_001317507.1:n.2122-818_2122-817insAG