Canonical Allele Identifier: CA2695218785

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950022_51950078del , CM000675.2:g.51950022_51950078del	GRCh38
NC_000013.10:g.52524158_52524214del , CM000675.1:g.52524158_52524214del	GRCh37
NC_000013.9:g.51422159_51422215del	NCBI36
NG_008806.1:g.66420_66476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*495_*551del	ENSP00000489512.2:n.*495_*551del
ENST00000673864.2:c.*1406_*1462del	ENSP00000501045.2:n.*1406_*1462del
ENST00000674147.2:c.2176_2232del	ENSP00000500964.2:p.Thr726_Ala744del
ENST00000242839.10:c.2662_2718del MANE Select	ENSP00000242839.5:p.Thr888_Ala906del
ENST00000344297.9:c.2176_2232del	ENSP00000342559.5:p.Thr726_Ala744del
ENST00000400366.6:c.2329_2385del	ENSP00000383217.3:p.Thr777_Ala795del
ENST00000448424.7:c.2410_2466del	ENSP00000416738.3:p.Thr804_Ala822del
ENST00000673772.1:c.2428_2484del	ENSP00000501168.1:p.Thr810_Ala828del
ENST00000674147.1:c.1732_1788del	ENSP00000500964.1:p.Thr578_Ala596del
ENST00000242839.8:c.2662_2718del	ENSP00000242839.4:p.Thr888_Ala906del
ENST00000344297.8:c.2176_2232del	ENSP00000342559.5:p.Thr726_Ala744del
ENST00000400366.5:c.2329_2385del	ENSP00000383217.3:p.Thr777_Ala795del
ENST00000400370.8:c.1372_1428del	ENSP00000383221.3:p.Thr458_Ala476del
ENST00000418097.7:c.2662_2718del	ENSP00000393343.2:p.Thr888_Ala906del
ENST00000448424.6:c.2428_2484del	ENSP00000416738.2:p.Thr810_Ala828del
ENST00000634296.1:c.623_679del
ENST00000634308.1:c.2428_2484del	ENSP00000489234.1:p.Thr810_Ala828del
ENST00000634620.1:n.3460_3516del
ENST00000634810.1:n.2007_2063del
ENST00000634844.1:c.2518_2574del	ENSP00000489398.1:p.Thr840_Ala858del
ENST00000635406.1:n.212-3597_212-3541del
NM_000053.3:c.2662_2718del	NP_000044.2:p.Thr888_Ala906del
NM_001005918.2:c.2176_2232del	NP_001005918.1:p.Thr726_Ala744del
NM_001243182.1:c.2329_2385del	NP_001230111.1:p.Thr777_Ala795del
XM_005266423.2:c.2566_2622del	XP_005266480.1:p.Thr856_Ala874del
XM_005266424.3:c.2566_2622del	XP_005266481.1:p.Thr856_Ala874del
XM_005266427.2:c.2428_2484del	XP_005266484.1:p.Thr810_Ala828del
XM_005266428.1:c.2410_2466del	XP_005266485.1:p.Thr804_Ala822del
XM_005266430.3:c.2662_2718del	XP_005266487.1:p.Thr888_Ala906del
XM_005266431.2:c.2626_2682del	XP_005266488.1:p.Thr876_Ala894del
XM_005266432.2:c.2176_2232del	XP_005266489.1:p.Thr726_Ala744del
XM_006719837.2:c.2566_2622del	XP_006719900.1:p.Thr856_Ala874del
XM_006719838.1:c.478_534del	XP_006719901.1:p.Thr160_Ala178del
XM_006719839.1:c.478_534del	XP_006719902.1:p.Thr160_Ala178del
XM_011535117.1:c.2566_2622del	XP_011533419.1:p.Thr856_Ala874del
XM_011535118.1:c.2662_2718del	XP_011533420.1:p.Thr888_Ala906del
XM_011535119.1:c.2662_2718del	XP_011533421.1:p.Thr888_Ala906del
XM_011535120.1:c.2248_2304del	XP_011533422.1:p.Thr750_Ala768del
XM_011535121.1:c.2662_2718del	XP_011533423.1:p.Thr888_Ala906del
XM_011535122.1:c.1330_1386del	XP_011533424.1:p.Thr444_Ala462del
XR_941601.1:n.2881_2937del
XR_941602.1:n.2881_2937del
XR_941603.1:n.2881_2937del
XR_941604.1:n.2881_2937del
NM_001330578.1:c.2428_2484del	NP_001317507.1:p.Thr810_Ala828del
NM_001330579.1:c.2410_2466del	NP_001317508.1:p.Thr804_Ala822del
XM_005266424.4:c.2566_2622del	XP_005266481.1:p.Thr856_Ala874del
XM_005266430.4:c.2662_2718del	XP_005266487.1:p.Thr888_Ala906del
XM_005266431.4:c.2626_2682del	XP_005266488.1:p.Thr876_Ala894del
XM_006719837.3:c.2566_2622del	XP_006719900.1:p.Thr856_Ala874del
XM_011535117.3:c.2566_2622del	XP_011533419.1:p.Thr856_Ala874del
XM_017020627.1:c.2566_2622del	XP_016876116.1:p.Thr856_Ala874del
NM_000053.4:c.2662_2718del MANE Select	NP_000044.2:p.Thr888_Ala906del
NM_001005918.3:c.2176_2232del	NP_001005918.1:p.Thr726_Ala744del
NM_001330579.2:c.2410_2466del	NP_001317508.1:p.Thr804_Ala822del
NM_001243182.2:c.2329_2385del	NP_001230111.1:p.Thr777_Ala795del
NM_001330578.2:c.2428_2484del	NP_001317507.1:p.Thr810_Ala828del