Canonical Allele Identifier: CA2695218777

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949672_51949675del , CM000675.2:g.51949672_51949675del	GRCh38
NC_000013.10:g.52523808_52523811del , CM000675.1:g.52523808_52523811del	GRCh37
NC_000013.9:g.51421809_51421812del	NCBI36
NG_008806.1:g.66821_66824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*686_*689del	ENSP00000489512.2:n.*686_*689del
ENST00000673864.2:c.*1597_*1600del	ENSP00000501045.2:n.*1597_*1600del
ENST00000674147.2:c.2244+333_2244+336del	ENSP00000500964.2:n.2244+333_2244+336del
ENST00000242839.10:c.2853_2856del MANE Select	ENSP00000242839.5:p.Gln951HisfsTer15
ENST00000344297.9:c.2244+333_2244+336del	ENSP00000342559.5:n.2244+333_2244+336del
ENST00000400366.6:c.2520_2523del	ENSP00000383217.3:p.Gln840HisfsTer15
ENST00000448424.7:c.2601_2604del	ENSP00000416738.3:p.Gln867HisfsTer15
ENST00000673772.1:c.2619_2622del	ENSP00000501168.1:p.Gln873HisfsTer15
ENST00000674126.1:n.33_36del
ENST00000674147.1:c.1800+333_1800+336del	ENSP00000500964.1:n.1800+333_1800+336del
ENST00000242839.8:c.2853_2856del	ENSP00000242839.4:p.Gln951HisfsTer15
ENST00000344297.8:c.2244+333_2244+336del	ENSP00000342559.5:n.2244+333_2244+336del
ENST00000400366.5:c.2520_2523del	ENSP00000383217.3:p.Gln840HisfsTer15
ENST00000400370.8:c.1563_1566del	ENSP00000383221.3:p.Gln521HisfsTer15
ENST00000418097.7:c.2853_2856del	ENSP00000393343.2:p.Gln951HisfsTer5
ENST00000448424.6:c.2619_2622del	ENSP00000416738.2:p.Gln873HisfsTer15
ENST00000634296.1:c.814_817del
ENST00000634308.1:c.2619_2622del	ENSP00000489234.1:p.Gln873HisfsTer10
ENST00000634620.1:n.3609+42_3609+45del
ENST00000634810.1:n.2198_2201del
ENST00000634844.1:c.2709_2712del	ENSP00000489398.1:p.Gln903HisfsTer15
ENST00000635406.1:n.212-3196_212-3193del
NM_000053.3:c.2853_2856del	NP_000044.2:p.Gln951HisfsTer15
NM_001005918.2:c.2244+333_2244+336del	NP_001005918.1:n.2244+333_2244+336del
NM_001243182.1:c.2520_2523del	NP_001230111.1:p.Gln840HisfsTer15
XM_005266423.2:c.2757_2760del	XP_005266480.1:p.Gln919HisfsTer15
XM_005266424.3:c.2757_2760del	XP_005266481.1:p.Gln919HisfsTer15
XM_005266427.2:c.2619_2622del	XP_005266484.1:p.Gln873HisfsTer15
XM_005266428.1:c.2601_2604del	XP_005266485.1:p.Gln867HisfsTer15
XM_005266430.3:c.2853_2856del	XP_005266487.1:p.Gln951HisfsTer15
XM_005266431.2:c.2817_2820del	XP_005266488.1:p.Gln939HisfsTer15
XM_005266432.2:c.2367_2370del	XP_005266489.1:p.Gln789HisfsTer15
XM_006719837.2:c.2757_2760del	XP_006719900.1:p.Gln919HisfsTer15
XM_006719838.1:c.669_672del	XP_006719901.1:p.Gln223HisfsTer15
XM_006719839.1:c.669_672del	XP_006719902.1:p.Gln223HisfsTer15
XM_011535117.1:c.2757_2760del	XP_011533419.1:p.Gln919HisfsTer15
XM_011535118.1:c.2730+333_2730+336del	XP_011533420.1:n.2730+333_2730+336del
XM_011535119.1:c.2853_2856del	XP_011533421.1:p.Gln951HisfsTer15
XM_011535120.1:c.2439_2442del	XP_011533422.1:p.Gln813HisfsTer15
XM_011535121.1:c.2730+333_2730+336del	XP_011533423.1:n.2730+333_2730+336del
XM_011535122.1:c.1521_1524del	XP_011533424.1:p.Gln507HisfsTer15
XR_941601.1:n.3072_3075del
XR_941602.1:n.3072_3075del
XR_941603.1:n.3072_3075del
XR_941604.1:n.3072_3075del
NM_001330578.1:c.2619_2622del	NP_001317507.1:p.Gln873HisfsTer15
NM_001330579.1:c.2601_2604del	NP_001317508.1:p.Gln867HisfsTer15
XM_005266424.4:c.2757_2760del	XP_005266481.1:p.Gln919HisfsTer15
XM_005266430.4:c.2853_2856del	XP_005266487.1:p.Gln951HisfsTer15
XM_005266431.4:c.2817_2820del	XP_005266488.1:p.Gln939HisfsTer15
XM_006719837.3:c.2757_2760del	XP_006719900.1:p.Gln919HisfsTer15
XM_011535117.3:c.2757_2760del	XP_011533419.1:p.Gln919HisfsTer15
XM_017020627.1:c.2757_2760del	XP_016876116.1:p.Gln919HisfsTer15
NM_000053.4:c.2853_2856del MANE Select	NP_000044.2:p.Gln951HisfsTer15
NM_001005918.3:c.2244+333_2244+336del	NP_001005918.1:n.2244+333_2244+336del
NM_001330579.2:c.2601_2604del	NP_001317508.1:p.Gln867HisfsTer15
NM_001243182.2:c.2520_2523del	NP_001230111.1:p.Gln840HisfsTer15
NM_001330578.2:c.2619_2622del	NP_001317507.1:p.Gln873HisfsTer15