Canonical Allele Identifier: CA956026654

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957013524
• gnomAD v3: 13-51937138-TGA-T
• gnomAD v4: 13-51937138-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937139_51937140del , CM000675.2:g.51937139_51937140del	GRCh38
NC_000013.10:g.52511275_52511276del , CM000675.1:g.52511275_52511276del	GRCh37
NC_000013.9:g.51409276_51409277del	NCBI36
NG_008806.1:g.79355_79356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1671+136_*1671+137del	ENSP00000489512.2:n.*1671+136_*1671+137del
ENST00000673864.2:c.*2765+136_*2765+137del	ENSP00000501045.2:n.*2765+136_*2765+137del
ENST00000674147.2:c.3400+136_3400+137del	ENSP00000500964.2:n.3400+136_3400+137del
ENST00000242839.10:c.4021+136_4021+137del MANE Select	ENSP00000242839.5:n.4021+136_4021+137del
ENST00000344297.9:c.3400+136_3400+137del	ENSP00000342559.5:n.3400+136_3400+137del
ENST00000400366.6:c.3688+136_3688+137del	ENSP00000383217.3:n.3688+136_3688+137del
ENST00000448424.7:c.3769+136_3769+137del	ENSP00000416738.3:n.3769+136_3769+137del
ENST00000673696.1:n.1344+136_1344+137del
ENST00000673772.1:c.3787+136_3787+137del	ENSP00000501168.1:n.3787+136_3787+137del
ENST00000673867.1:n.4160+136_4160+137del
ENST00000673923.1:n.887+136_887+137del
ENST00000674147.1:c.2956+136_2956+137del	ENSP00000500964.1:n.2956+136_2956+137del
ENST00000242839.8:c.4021+136_4021+137del	ENSP00000242839.4:n.4021+136_4021+137del
ENST00000344297.8:c.3400+136_3400+137del	ENSP00000342559.5:n.3400+136_3400+137del
ENST00000400366.5:c.3688+136_3688+137del	ENSP00000383217.3:n.3688+136_3688+137del
ENST00000400370.8:c.2731+136_2731+137del	ENSP00000383221.3:n.2731+136_2731+137del
ENST00000418097.7:c.3826+136_3826+137del	ENSP00000393343.2:n.3826+136_3826+137del
ENST00000448424.6:c.3787+136_3787+137del	ENSP00000416738.2:n.3787+136_3787+137del
ENST00000634296.1:c.1799+136_1799+137del
ENST00000634308.1:c.*1122+136_*1122+137del	ENSP00000489234.1:n.*1122+136_*1122+137del
ENST00000634620.1:n.4765+136_4765+137del
ENST00000634810.1:n.3366+136_3366+137del
ENST00000634844.1:c.3877+136_3877+137del	ENSP00000489398.1:n.3877+136_3877+137del
NM_000053.3:c.4021+136_4021+137del	NP_000044.2:n.4021+136_4021+137del
NM_001005918.2:c.3400+136_3400+137del	NP_001005918.1:n.3400+136_3400+137del
NM_001243182.1:c.3688+136_3688+137del	NP_001230111.1:n.3688+136_3688+137del
XM_005266423.2:c.3925+136_3925+137del	XP_005266480.1:n.3925+136_3925+137del
XM_005266424.3:c.3925+136_3925+137del	XP_005266481.1:n.3925+136_3925+137del
XM_005266427.2:c.3787+136_3787+137del	XP_005266484.1:n.3787+136_3787+137del
XM_005266428.1:c.3769+136_3769+137del	XP_005266485.1:n.3769+136_3769+137del
XM_005266430.3:c.4021+136_4021+137del	XP_005266487.1:n.4021+136_4021+137del
XM_005266431.2:c.3985+136_3985+137del	XP_005266488.1:n.3985+136_3985+137del
XM_005266432.2:c.3535+136_3535+137del	XP_005266489.1:n.3535+136_3535+137del
XM_006719837.2:c.3925+136_3925+137del	XP_006719900.1:n.3925+136_3925+137del
XM_006719838.1:c.1837+136_1837+137del	XP_006719901.1:n.1837+136_1837+137del
XM_006719839.1:c.1654+136_1654+137del	XP_006719902.1:n.1654+136_1654+137del
XM_011535117.1:c.3925+136_3925+137del	XP_011533419.1:n.3925+136_3925+137del
XM_011535118.1:c.3886+136_3886+137del	XP_011533420.1:n.3886+136_3886+137del
XM_011535119.1:c.3838+136_3838+137del	XP_011533421.1:n.3838+136_3838+137del
XM_011535120.1:c.3607+136_3607+137del	XP_011533422.1:n.3607+136_3607+137del
XM_011535121.1:c.3508+136_3508+137del	XP_011533423.1:n.3508+136_3508+137del
XM_011535122.1:c.2689+136_2689+137del	XP_011533424.1:n.2689+136_2689+137del
XR_941601.1:n.4240+136_4240+137del
XR_941602.1:n.4240+136_4240+137del
XR_941603.1:n.4240+136_4240+137del
XR_941604.1:n.4240+136_4240+137del
NM_001330578.1:c.3787+136_3787+137del	NP_001317507.1:n.3787+136_3787+137del
NM_001330579.1:c.3769+136_3769+137del	NP_001317508.1:n.3769+136_3769+137del
XM_005266424.4:c.3925+136_3925+137del	XP_005266481.1:n.3925+136_3925+137del
XM_005266430.4:c.4021+136_4021+137del	XP_005266487.1:n.4021+136_4021+137del
XM_005266431.4:c.3985+136_3985+137del	XP_005266488.1:n.3985+136_3985+137del
XM_006719837.3:c.3925+136_3925+137del	XP_006719900.1:n.3925+136_3925+137del
XM_011535117.3:c.3925+136_3925+137del	XP_011533419.1:n.3925+136_3925+137del
XM_017020627.1:c.3925+136_3925+137del	XP_016876116.1:n.3925+136_3925+137del
NM_000053.4:c.4021+136_4021+137del MANE Select	NP_000044.2:n.4021+136_4021+137del
NM_001005918.3:c.3400+136_3400+137del	NP_001005918.1:n.3400+136_3400+137del
NM_001330579.2:c.3769+136_3769+137del	NP_001317508.1:n.3769+136_3769+137del
NM_001243182.2:c.3688+136_3688+137del	NP_001230111.1:n.3688+136_3688+137del
NM_001330578.2:c.3787+136_3787+137del	NP_001317507.1:n.3787+136_3787+137del