Canonical Allele Identifier: CA912974800

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52523830_52523837del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949694_51949701del , CM000675.2:g.51949694_51949701del	GRCh38
NC_000013.10:g.52523830_52523837del , CM000675.1:g.52523830_52523837del	GRCh37
NC_000013.9:g.51421831_51421838del	NCBI36
NG_008806.1:g.66794_66801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*659_*666del	ENSP00000489512.2:n.*659_*666del
ENST00000673864.2:c.*1570_*1577del	ENSP00000501045.2:n.*1570_*1577del
ENST00000674147.2:c.2244+306_2244+313del	ENSP00000500964.2:n.2244+306_2244+313del
ENST00000242839.10:c.2826_2833del MANE Select	ENSP00000242839.5:p.Gly943ArgfsTer11
ENST00000344297.9:c.2244+306_2244+313del	ENSP00000342559.5:n.2244+306_2244+313del
ENST00000400366.6:c.2493_2500del	ENSP00000383217.3:p.Gly832ArgfsTer11
ENST00000448424.7:c.2574_2581del	ENSP00000416738.3:p.Gly859ArgfsTer11
ENST00000673772.1:c.2592_2599del	ENSP00000501168.1:p.Gly865ArgfsTer11
ENST00000674126.1:n.6_13del
ENST00000674147.1:c.1800+306_1800+313del	ENSP00000500964.1:n.1800+306_1800+313del
ENST00000242839.8:c.2826_2833del	ENSP00000242839.4:p.Gly943ArgfsTer11
ENST00000344297.8:c.2244+306_2244+313del	ENSP00000342559.5:n.2244+306_2244+313del
ENST00000400366.5:c.2493_2500del	ENSP00000383217.3:p.Gly832ArgfsTer11
ENST00000400370.8:c.1536_1543del	ENSP00000383221.3:p.Gly513ArgfsTer11
ENST00000418097.7:c.2826_2833del	ENSP00000393343.2:p.Gly943ArgfsTer17
ENST00000448424.6:c.2592_2599del	ENSP00000416738.2:p.Gly865ArgfsTer11
ENST00000634296.1:c.787_794del
ENST00000634308.1:c.2592_2599del	ENSP00000489234.1:p.Gly865ArgfsTer?
ENST00000634620.1:n.3609+15_3609+22del
ENST00000634810.1:n.2171_2178del
ENST00000634844.1:c.2682_2689del	ENSP00000489398.1:p.Gly895ArgfsTer11
ENST00000635406.1:n.212-3223_212-3216del
NM_000053.3:c.2826_2833del	NP_000044.2:p.Gly943ArgfsTer11
NM_001005918.2:c.2244+306_2244+313del	NP_001005918.1:n.2244+306_2244+313del
NM_001243182.1:c.2493_2500del	NP_001230111.1:p.Gly832ArgfsTer11
XM_005266423.2:c.2730_2737del	XP_005266480.1:p.Gly911ArgfsTer11
XM_005266424.3:c.2730_2737del	XP_005266481.1:p.Gly911ArgfsTer11
XM_005266427.2:c.2592_2599del	XP_005266484.1:p.Gly865ArgfsTer11
XM_005266428.1:c.2574_2581del	XP_005266485.1:p.Gly859ArgfsTer11
XM_005266430.3:c.2826_2833del	XP_005266487.1:p.Gly943ArgfsTer11
XM_005266431.2:c.2790_2797del	XP_005266488.1:p.Gly931ArgfsTer11
XM_005266432.2:c.2340_2347del	XP_005266489.1:p.Gly781ArgfsTer11
XM_006719837.2:c.2730_2737del	XP_006719900.1:p.Gly911ArgfsTer11
XM_006719838.1:c.642_649del	XP_006719901.1:p.Gly215ArgfsTer11
XM_006719839.1:c.642_649del	XP_006719902.1:p.Gly215ArgfsTer11
XM_011535117.1:c.2730_2737del	XP_011533419.1:p.Gly911ArgfsTer11
XM_011535118.1:c.2730+306_2730+313del	XP_011533420.1:n.2730+306_2730+313del
XM_011535119.1:c.2826_2833del	XP_011533421.1:p.Gly943ArgfsTer11
XM_011535120.1:c.2412_2419del	XP_011533422.1:p.Gly805ArgfsTer11
XM_011535121.1:c.2730+306_2730+313del	XP_011533423.1:n.2730+306_2730+313del
XM_011535122.1:c.1494_1501del	XP_011533424.1:p.Gly499ArgfsTer11
XR_941601.1:n.3045_3052del
XR_941602.1:n.3045_3052del
XR_941603.1:n.3045_3052del
XR_941604.1:n.3045_3052del
NM_001330578.1:c.2592_2599del	NP_001317507.1:p.Gly865ArgfsTer11
NM_001330579.1:c.2574_2581del	NP_001317508.1:p.Gly859ArgfsTer11
XM_005266424.4:c.2730_2737del	XP_005266481.1:p.Gly911ArgfsTer11
XM_005266430.4:c.2826_2833del	XP_005266487.1:p.Gly943ArgfsTer11
XM_005266431.4:c.2790_2797del	XP_005266488.1:p.Gly931ArgfsTer11
XM_006719837.3:c.2730_2737del	XP_006719900.1:p.Gly911ArgfsTer11
XM_011535117.3:c.2730_2737del	XP_011533419.1:p.Gly911ArgfsTer11
XM_017020627.1:c.2730_2737del	XP_016876116.1:p.Gly911ArgfsTer11
NM_000053.4:c.2826_2833del MANE Select	NP_000044.2:p.Gly943ArgfsTer11
NM_001005918.3:c.2244+306_2244+313del	NP_001005918.1:n.2244+306_2244+313del
NM_001330579.2:c.2574_2581del	NP_001317508.1:p.Gly859ArgfsTer11
NM_001243182.2:c.2493_2500del	NP_001230111.1:p.Gly832ArgfsTer11
NM_001330578.2:c.2592_2599del	NP_001317507.1:p.Gly865ArgfsTer11