Canonical Allele Identifier: CA2091566226

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946472_51946473delinsTG , CM000675.2:g.51946472_51946473delinsTG	GRCh38
NC_000013.10:g.52520608_52520609delinsTG , CM000675.1:g.52520608_52520609delinsTG	GRCh37
NC_000013.9:g.51418609_51418610delinsTG	NCBI36
NG_008806.1:g.70022_70023delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*704_*705delinsCA	ENSP00000489512.2:n.*704_*705delinsCA
ENST00000673864.2:c.*1615_*1616delinsCA	ENSP00000501045.2:n.*1615_*1616delinsCA
ENST00000674147.2:c.2250_2251delinsCA	ENSP00000500964.2:p.Pro750=
ENST00000242839.10:c.2871_2872delinsCA MANE Select	ENSP00000242839.5:p.Pro957=
ENST00000344297.9:c.2250_2251delinsCA	ENSP00000342559.5:p.Pro750=
ENST00000400366.6:c.2538_2539delinsCA	ENSP00000383217.3:p.Pro846=
ENST00000448424.7:c.2619_2620delinsCA	ENSP00000416738.3:p.Pro873=
ENST00000673772.1:c.2637_2638delinsCA	ENSP00000501168.1:p.Pro879=
ENST00000673867.1:n.1018_1019delinsCA
ENST00000674126.1:n.3234_3235delinsCA
ENST00000674147.1:c.1806_1807delinsCA	ENSP00000500964.1:p.Pro602=
ENST00000242839.8:c.2871_2872delinsCA	ENSP00000242839.4:p.Pro957=
ENST00000344297.8:c.2250_2251delinsCA	ENSP00000342559.5:p.Pro750=
ENST00000400366.5:c.2538_2539delinsCA	ENSP00000383217.3:p.Pro846=
ENST00000400370.8:c.1581_1582delinsCA	ENSP00000383221.3:p.Pro527=
ENST00000418097.7:c.2866-2182_2866-2181delinsCA	ENSP00000393343.2:n.2866-2182_2866-2181delinsCA
ENST00000448424.6:c.2637_2638delinsCA	ENSP00000416738.2:p.Pro879=
ENST00000466629.1:n.91_92delinsCA
ENST00000634296.1:c.832_833delinsCA
ENST00000634308.1:c.2657_2658delinsCA	ENSP00000489234.1:p.Pro886=
ENST00000634620.1:n.3615_3616delinsCA
ENST00000634810.1:n.2216_2217delinsCA
ENST00000634844.1:c.2727_2728delinsCA	ENSP00000489398.1:p.Pro909=
ENST00000635406.1:n.217_218delinsCA
NM_000053.3:c.2871_2872delinsCA	NP_000044.2:p.Pro957=
NM_001005918.2:c.2250_2251delinsCA	NP_001005918.1:p.Pro750=
NM_001243182.1:c.2538_2539delinsCA	NP_001230111.1:p.Pro846=
XM_005266423.2:c.2775_2776delinsCA	XP_005266480.1:p.Pro925=
XM_005266424.3:c.2775_2776delinsCA	XP_005266481.1:p.Pro925=
XM_005266427.2:c.2637_2638delinsCA	XP_005266484.1:p.Pro879=
XM_005266428.1:c.2619_2620delinsCA	XP_005266485.1:p.Pro873=
XM_005266430.3:c.2871_2872delinsCA	XP_005266487.1:p.Pro957=
XM_005266431.2:c.2835_2836delinsCA	XP_005266488.1:p.Pro945=
XM_005266432.2:c.2385_2386delinsCA	XP_005266489.1:p.Pro795=
XM_006719837.2:c.2775_2776delinsCA	XP_006719900.1:p.Pro925=
XM_006719838.1:c.687_688delinsCA	XP_006719901.1:p.Pro229=
XM_006719839.1:c.687_688delinsCA	XP_006719902.1:p.Pro229=
XM_011535117.1:c.2775_2776delinsCA	XP_011533419.1:p.Pro925=
XM_011535118.1:c.2736_2737delinsCA	XP_011533420.1:p.Pro912=
XM_011535119.1:c.2871_2872delinsCA	XP_011533421.1:p.Pro957=
XM_011535120.1:c.2457_2458delinsCA	XP_011533422.1:p.Pro819=
XM_011535121.1:c.2730+3534_2730+3535delinsCA	XP_011533423.1:n.2730+3534_2730+3535delinsCA
XM_011535122.1:c.1539_1540delinsCA	XP_011533424.1:p.Pro513=
XR_941601.1:n.3090_3091delinsCA
XR_941602.1:n.3090_3091delinsCA
XR_941603.1:n.3090_3091delinsCA
XR_941604.1:n.3090_3091delinsCA
NM_001330578.1:c.2637_2638delinsCA	NP_001317507.1:p.Pro879=
NM_001330579.1:c.2619_2620delinsCA	NP_001317508.1:p.Pro873=
XM_005266424.4:c.2775_2776delinsCA	XP_005266481.1:p.Pro925=
XM_005266430.4:c.2871_2872delinsCA	XP_005266487.1:p.Pro957=
XM_005266431.4:c.2835_2836delinsCA	XP_005266488.1:p.Pro945=
XM_006719837.3:c.2775_2776delinsCA	XP_006719900.1:p.Pro925=
XM_011535117.3:c.2775_2776delinsCA	XP_011533419.1:p.Pro925=
XM_017020627.1:c.2775_2776delinsCA	XP_016876116.1:p.Pro925=
NM_000053.4:c.2871_2872delinsCA MANE Select	NP_000044.2:p.Pro957=
NM_001005918.3:c.2250_2251delinsCA	NP_001005918.1:p.Pro750=
NM_001330579.2:c.2619_2620delinsCA	NP_001317508.1:p.Pro873=
NM_001243182.2:c.2538_2539delinsCA	NP_001230111.1:p.Pro846=
NM_001330578.2:c.2637_2638delinsCA	NP_001317507.1:p.Pro879=