Canonical Allele Identifier: CA609963665

Gene: ATP7B

Linked Data

• dbSNP Id: rs1417124089
• gnomAD v2: 13-52515266-CAT-C
• gnomAD v3: 13-51941130-CAT-C
• gnomAD v4: 13-51941130-CAT-C
• MyVariant Identifiers: chr13:g.52515267_52515268del (hg19) ; chr13:g.51941131_51941132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941132_51941133del , CM000675.2:g.51941132_51941133del	GRCh38
NC_000013.10:g.52515268_52515269del , CM000675.1:g.52515268_52515269del	GRCh37
NC_000013.9:g.51413269_51413270del	NCBI36
NG_008806.1:g.75363_75364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1155_*1156del	ENSP00000489512.2:n.*1155_*1156del
ENST00000673864.2:c.*2249_*2250del	ENSP00000501045.2:n.*2249_*2250del
ENST00000674147.2:c.2884_2885del	ENSP00000500964.2:p.Met962AspfsTer16
ENST00000242839.10:c.3505_3506del MANE Select	ENSP00000242839.5:p.Met1169AspfsTer16
ENST00000344297.9:c.2884_2885del	ENSP00000342559.5:p.Met962AspfsTer16
ENST00000400366.6:c.3172_3173del	ENSP00000383217.3:p.Met1058AspfsTer16
ENST00000448424.7:c.3253_3254del	ENSP00000416738.3:p.Met1085AspfsTer16
ENST00000673772.1:c.3271_3272del	ENSP00000501168.1:p.Met1091AspfsTer16
ENST00000673867.1:n.3644_3645del
ENST00000674126.1:n.3868_3869del
ENST00000674147.1:c.2440_2441del	ENSP00000500964.1:p.Met814AspfsTer16
ENST00000242839.8:c.3505_3506del	ENSP00000242839.4:p.Met1169AspfsTer16
ENST00000344297.8:c.2884_2885del	ENSP00000342559.5:p.Met962AspfsTer16
ENST00000400366.5:c.3172_3173del	ENSP00000383217.3:p.Met1058AspfsTer16
ENST00000400370.8:c.2215_2216del	ENSP00000383221.3:p.Met739AspfsTer16
ENST00000418097.7:c.3310_3311del	ENSP00000393343.2:p.Met1104AspfsTer16
ENST00000448424.6:c.3271_3272del	ENSP00000416738.2:p.Met1091AspfsTer16
ENST00000634296.1:c.1283_1284del
ENST00000634308.1:c.*606_*607del	ENSP00000489234.1:n.*606_*607del
ENST00000634620.1:n.4249_4250del
ENST00000634810.1:n.2850_2851del
ENST00000634844.1:c.3361_3362del	ENSP00000489398.1:p.Met1121AspfsTer16
NM_000053.3:c.3505_3506del	NP_000044.2:p.Met1169AspfsTer16
NM_001005918.2:c.2884_2885del	NP_001005918.1:p.Met962AspfsTer16
NM_001243182.1:c.3172_3173del	NP_001230111.1:p.Met1058AspfsTer16
XM_005266423.2:c.3409_3410del	XP_005266480.1:p.Met1137AspfsTer16
XM_005266424.3:c.3409_3410del	XP_005266481.1:p.Met1137AspfsTer16
XM_005266427.2:c.3271_3272del	XP_005266484.1:p.Met1091AspfsTer16
XM_005266428.1:c.3253_3254del	XP_005266485.1:p.Met1085AspfsTer16
XM_005266430.3:c.3505_3506del	XP_005266487.1:p.Met1169AspfsTer16
XM_005266431.2:c.3469_3470del	XP_005266488.1:p.Met1157AspfsTer16
XM_005266432.2:c.3019_3020del	XP_005266489.1:p.Met1007AspfsTer16
XM_006719837.2:c.3409_3410del	XP_006719900.1:p.Met1137AspfsTer16
XM_006719838.1:c.1321_1322del	XP_006719901.1:p.Met441AspfsTer16
XM_006719839.1:c.1138_1139del	XP_006719902.1:p.Met380AspfsTer16
XM_011535117.1:c.3409_3410del	XP_011533419.1:p.Met1137AspfsTer16
XM_011535118.1:c.3370_3371del	XP_011533420.1:p.Met1124AspfsTer16
XM_011535119.1:c.3322_3323del	XP_011533421.1:p.Met1108AspfsTer16
XM_011535120.1:c.3091_3092del	XP_011533422.1:p.Met1031AspfsTer16
XM_011535121.1:c.2992_2993del	XP_011533423.1:p.Met998AspfsTer16
XM_011535122.1:c.2173_2174del	XP_011533424.1:p.Met725AspfsTer16
XR_941601.1:n.3724_3725del
XR_941602.1:n.3724_3725del
XR_941603.1:n.3724_3725del
XR_941604.1:n.3724_3725del
NM_001330578.1:c.3271_3272del	NP_001317507.1:p.Met1091AspfsTer16
NM_001330579.1:c.3253_3254del	NP_001317508.1:p.Met1085AspfsTer16
XM_005266424.4:c.3409_3410del	XP_005266481.1:p.Met1137AspfsTer16
XM_005266430.4:c.3505_3506del	XP_005266487.1:p.Met1169AspfsTer16
XM_005266431.4:c.3469_3470del	XP_005266488.1:p.Met1157AspfsTer16
XM_006719837.3:c.3409_3410del	XP_006719900.1:p.Met1137AspfsTer16
XM_011535117.3:c.3409_3410del	XP_011533419.1:p.Met1137AspfsTer16
XM_017020627.1:c.3409_3410del	XP_016876116.1:p.Met1137AspfsTer16
NM_000053.4:c.3505_3506del MANE Select	NP_000044.2:p.Met1169AspfsTer16
NM_001005918.3:c.2884_2885del	NP_001005918.1:p.Met962AspfsTer16
NM_001330579.2:c.3253_3254del	NP_001317508.1:p.Met1085AspfsTer16
NM_001243182.2:c.3172_3173del	NP_001230111.1:p.Met1058AspfsTer16
NM_001330578.2:c.3271_3272del	NP_001317507.1:p.Met1091AspfsTer16