Canonical Allele Identifier: CA658823707

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 553244
• ClinVar RCV Id: RCV000668650
• dbSNP Id: rs1555288385
• MyVariant Identifiers: chr13:g.51949695_51949701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949696_51949702del , CM000675.2:g.51949696_51949702del	GRCh38
NC_000013.10:g.52523832_52523838del , CM000675.1:g.52523832_52523838del	GRCh37
NC_000013.9:g.51421833_51421839del	NCBI36
NG_008806.1:g.66794_66800del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*659_*665del	ENSP00000489512.2:n.*659_*665del
ENST00000673864.2:c.*1570_*1576del	ENSP00000501045.2:n.*1570_*1576del
ENST00000674147.2:c.2244+306_2244+312del	ENSP00000500964.2:n.2244+306_2244+312del
ENST00000242839.10:c.2826_2832del MANE Select	ENSP00000242839.5:p.Gly943SerfsTer22
ENST00000344297.9:c.2244+306_2244+312del	ENSP00000342559.5:n.2244+306_2244+312del
ENST00000400366.6:c.2493_2499del	ENSP00000383217.3:p.Gly832SerfsTer22
ENST00000448424.7:c.2574_2580del	ENSP00000416738.3:p.Gly859SerfsTer22
ENST00000673772.1:c.2592_2598del	ENSP00000501168.1:p.Gly865SerfsTer22
ENST00000674126.1:n.6_12del
ENST00000674147.1:c.1800+306_1800+312del	ENSP00000500964.1:n.1800+306_1800+312del
ENST00000242839.8:c.2826_2832del	ENSP00000242839.4:p.Gly943SerfsTer22
ENST00000344297.8:c.2244+306_2244+312del	ENSP00000342559.5:n.2244+306_2244+312del
ENST00000400366.5:c.2493_2499del	ENSP00000383217.3:p.Gly832SerfsTer22
ENST00000400370.8:c.1536_1542del	ENSP00000383221.3:p.Gly513SerfsTer22
ENST00000418097.7:c.2826_2832del	ENSP00000393343.2:p.Gly943SerfsTer12
ENST00000448424.6:c.2592_2598del	ENSP00000416738.2:p.Gly865SerfsTer22
ENST00000634296.1:c.787_793del
ENST00000634308.1:c.2592_2598del	ENSP00000489234.1:p.Gly865SerfsTer17
ENST00000634620.1:n.3609+15_3609+21del
ENST00000634810.1:n.2171_2177del
ENST00000634844.1:c.2682_2688del	ENSP00000489398.1:p.Gly895SerfsTer22
ENST00000635406.1:n.212-3223_212-3217del
NM_000053.3:c.2826_2832del	NP_000044.2:p.Gly943SerfsTer22
NM_001005918.2:c.2244+306_2244+312del	NP_001005918.1:n.2244+306_2244+312del
NM_001243182.1:c.2493_2499del	NP_001230111.1:p.Gly832SerfsTer22
XM_005266423.2:c.2730_2736del	XP_005266480.1:p.Gly911SerfsTer22
XM_005266424.3:c.2730_2736del	XP_005266481.1:p.Gly911SerfsTer22
XM_005266427.2:c.2592_2598del	XP_005266484.1:p.Gly865SerfsTer22
XM_005266428.1:c.2574_2580del	XP_005266485.1:p.Gly859SerfsTer22
XM_005266430.3:c.2826_2832del	XP_005266487.1:p.Gly943SerfsTer22
XM_005266431.2:c.2790_2796del	XP_005266488.1:p.Gly931SerfsTer22
XM_005266432.2:c.2340_2346del	XP_005266489.1:p.Gly781SerfsTer22
XM_006719837.2:c.2730_2736del	XP_006719900.1:p.Gly911SerfsTer22
XM_006719838.1:c.642_648del	XP_006719901.1:p.Gly215SerfsTer22
XM_006719839.1:c.642_648del	XP_006719902.1:p.Gly215SerfsTer22
XM_011535117.1:c.2730_2736del	XP_011533419.1:p.Gly911SerfsTer22
XM_011535118.1:c.2730+306_2730+312del	XP_011533420.1:n.2730+306_2730+312del
XM_011535119.1:c.2826_2832del	XP_011533421.1:p.Gly943SerfsTer22
XM_011535120.1:c.2412_2418del	XP_011533422.1:p.Gly805SerfsTer22
XM_011535121.1:c.2730+306_2730+312del	XP_011533423.1:n.2730+306_2730+312del
XM_011535122.1:c.1494_1500del	XP_011533424.1:p.Gly499SerfsTer22
XR_941601.1:n.3045_3051del
XR_941602.1:n.3045_3051del
XR_941603.1:n.3045_3051del
XR_941604.1:n.3045_3051del
NM_001330578.1:c.2592_2598del	NP_001317507.1:p.Gly865SerfsTer22
NM_001330579.1:c.2574_2580del	NP_001317508.1:p.Gly859SerfsTer22
XM_005266424.4:c.2730_2736del	XP_005266481.1:p.Gly911SerfsTer22
XM_005266430.4:c.2826_2832del	XP_005266487.1:p.Gly943SerfsTer22
XM_005266431.4:c.2790_2796del	XP_005266488.1:p.Gly931SerfsTer22
XM_006719837.3:c.2730_2736del	XP_006719900.1:p.Gly911SerfsTer22
XM_011535117.3:c.2730_2736del	XP_011533419.1:p.Gly911SerfsTer22
XM_017020627.1:c.2730_2736del	XP_016876116.1:p.Gly911SerfsTer22
NM_000053.4:c.2826_2832del MANE Select	NP_000044.2:p.Gly943SerfsTer22
NM_001005918.3:c.2244+306_2244+312del	NP_001005918.1:n.2244+306_2244+312del
NM_001330579.2:c.2574_2580del	NP_001317508.1:p.Gly859SerfsTer22
NM_001243182.2:c.2493_2499del	NP_001230111.1:p.Gly832SerfsTer22
NM_001330578.2:c.2592_2598del	NP_001317507.1:p.Gly865SerfsTer22