Canonical Allele Identifier: CA610425876

Gene: ATP7B

Linked Data

• dbSNP Id: rs1422395365
• gnomAD v2: 13-52520603-CTTG-C
• gnomAD v4: 13-51946467-CTTG-C
• MyVariant Identifiers: chr13:g.52520604_52520606del (hg19) ; chr13:g.51946468_51946470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946471_51946473del , CM000675.2:g.51946471_51946473del	GRCh38
NC_000013.10:g.52520607_52520609del , CM000675.1:g.52520607_52520609del	GRCh37
NC_000013.9:g.51418608_51418610del	NCBI36
NG_008806.1:g.70025_70027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*707_*709del	ENSP00000489512.2:n.*707_*709del
ENST00000673864.2:c.*1618_*1620del	ENSP00000501045.2:n.*1618_*1620del
ENST00000674147.2:c.2253_2255del	ENSP00000500964.2:p.Asn751del
ENST00000242839.10:c.2874_2876del MANE Select	ENSP00000242839.5:p.Asn958del
ENST00000344297.9:c.2253_2255del	ENSP00000342559.5:p.Asn751del
ENST00000400366.6:c.2541_2543del	ENSP00000383217.3:p.Asn847del
ENST00000448424.7:c.2622_2624del	ENSP00000416738.3:p.Asn874del
ENST00000673772.1:c.2640_2642del	ENSP00000501168.1:p.Asn880del
ENST00000673867.1:n.1021_1023del
ENST00000674126.1:n.3237_3239del
ENST00000674147.1:c.1809_1811del	ENSP00000500964.1:p.Asn603del
ENST00000242839.8:c.2874_2876del	ENSP00000242839.4:p.Asn958del
ENST00000344297.8:c.2253_2255del	ENSP00000342559.5:p.Asn751del
ENST00000400366.5:c.2541_2543del	ENSP00000383217.3:p.Asn847del
ENST00000400370.8:c.1584_1586del	ENSP00000383221.3:p.Asn528del
ENST00000418097.7:c.2866-2179_2866-2177del	ENSP00000393343.2:n.2866-2179_2866-2177del
ENST00000448424.6:c.2640_2642del	ENSP00000416738.2:p.Asn880del
ENST00000466629.1:n.94_96del
ENST00000634296.1:c.835_837del
ENST00000634308.1:c.2660_2662del	ENSP00000489234.1:p.Thr887del
ENST00000634620.1:n.3618_3620del
ENST00000634810.1:n.2219_2221del
ENST00000634844.1:c.2730_2732del	ENSP00000489398.1:p.Asn910del
ENST00000635406.1:n.220_222del
NM_000053.3:c.2874_2876del	NP_000044.2:p.Asn958del
NM_001005918.2:c.2253_2255del	NP_001005918.1:p.Asn751del
NM_001243182.1:c.2541_2543del	NP_001230111.1:p.Asn847del
XM_005266423.2:c.2778_2780del	XP_005266480.1:p.Asn926del
XM_005266424.3:c.2778_2780del	XP_005266481.1:p.Asn926del
XM_005266427.2:c.2640_2642del	XP_005266484.1:p.Asn880del
XM_005266428.1:c.2622_2624del	XP_005266485.1:p.Asn874del
XM_005266430.3:c.2874_2876del	XP_005266487.1:p.Asn958del
XM_005266431.2:c.2838_2840del	XP_005266488.1:p.Asn946del
XM_005266432.2:c.2388_2390del	XP_005266489.1:p.Asn796del
XM_006719837.2:c.2778_2780del	XP_006719900.1:p.Asn926del
XM_006719838.1:c.690_692del	XP_006719901.1:p.Asn230del
XM_006719839.1:c.690_692del	XP_006719902.1:p.Asn230del
XM_011535117.1:c.2778_2780del	XP_011533419.1:p.Asn926del
XM_011535118.1:c.2739_2741del	XP_011533420.1:p.Asn913del
XM_011535119.1:c.2874_2876del	XP_011533421.1:p.Asn958del
XM_011535120.1:c.2460_2462del	XP_011533422.1:p.Asn820del
XM_011535121.1:c.2730+3537_2730+3539del	XP_011533423.1:n.2730+3537_2730+3539del
XM_011535122.1:c.1542_1544del	XP_011533424.1:p.Asn514del
XR_941601.1:n.3093_3095del
XR_941602.1:n.3093_3095del
XR_941603.1:n.3093_3095del
XR_941604.1:n.3093_3095del
NM_001330578.1:c.2640_2642del	NP_001317507.1:p.Asn880del
NM_001330579.1:c.2622_2624del	NP_001317508.1:p.Asn874del
XM_005266424.4:c.2778_2780del	XP_005266481.1:p.Asn926del
XM_005266430.4:c.2874_2876del	XP_005266487.1:p.Asn958del
XM_005266431.4:c.2838_2840del	XP_005266488.1:p.Asn946del
XM_006719837.3:c.2778_2780del	XP_006719900.1:p.Asn926del
XM_011535117.3:c.2778_2780del	XP_011533419.1:p.Asn926del
XM_017020627.1:c.2778_2780del	XP_016876116.1:p.Asn926del
NM_000053.4:c.2874_2876del MANE Select	NP_000044.2:p.Asn958del
NM_001005918.3:c.2253_2255del	NP_001005918.1:p.Asn751del
NM_001330579.2:c.2622_2624del	NP_001317508.1:p.Asn874del
NM_001243182.2:c.2541_2543del	NP_001230111.1:p.Asn847del
NM_001330578.2:c.2640_2642del	NP_001317507.1:p.Asn880del