Canonical Allele Identifier: CA2623117996

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51949529-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949532_51949534del , CM000675.2:g.51949532_51949534del	GRCh38
NC_000013.10:g.52523668_52523670del , CM000675.1:g.52523668_52523670del	GRCh37
NC_000013.9:g.51421669_51421671del	NCBI36
NG_008806.1:g.66963_66965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*698+130_*698+132del	ENSP00000489512.2:n.*698+130_*698+132del
ENST00000673864.2:c.*1609+130_*1609+132del	ENSP00000501045.2:n.*1609+130_*1609+132del
ENST00000674147.2:c.2244+475_2244+477del	ENSP00000500964.2:n.2244+475_2244+477del
ENST00000242839.10:c.2865+130_2865+132del MANE Select	ENSP00000242839.5:n.2865+130_2865+132del
ENST00000344297.9:c.2244+475_2244+477del	ENSP00000342559.5:n.2244+475_2244+477del
ENST00000400366.6:c.2532+130_2532+132del	ENSP00000383217.3:n.2532+130_2532+132del
ENST00000448424.7:c.2613+130_2613+132del	ENSP00000416738.3:n.2613+130_2613+132del
ENST00000673772.1:c.2631+130_2631+132del	ENSP00000501168.1:n.2631+130_2631+132del
ENST00000674126.1:n.175_177del
ENST00000674147.1:c.1800+475_1800+477del	ENSP00000500964.1:n.1800+475_1800+477del
ENST00000242839.8:c.2865+130_2865+132del	ENSP00000242839.4:n.2865+130_2865+132del
ENST00000344297.8:c.2244+475_2244+477del	ENSP00000342559.5:n.2244+475_2244+477del
ENST00000400366.5:c.2532+130_2532+132del	ENSP00000383217.3:n.2532+130_2532+132del
ENST00000400370.8:c.1575+130_1575+132del	ENSP00000383221.3:n.1575+130_1575+132del
ENST00000418097.7:c.2865+130_2865+132del	ENSP00000393343.2:n.2865+130_2865+132del
ENST00000448424.6:c.2631+130_2631+132del	ENSP00000416738.2:n.2631+130_2631+132del
ENST00000634296.1:c.826+130_826+132del
ENST00000634308.1:c.2631+130_2631+132del	ENSP00000489234.1:n.2631+130_2631+132del
ENST00000634620.1:n.3609+184_3609+186del
ENST00000634810.1:n.2210+130_2210+132del
ENST00000634844.1:c.2721+130_2721+132del	ENSP00000489398.1:n.2721+130_2721+132del
ENST00000635406.1:n.212-3054_212-3052del
NM_000053.3:c.2865+130_2865+132del	NP_000044.2:n.2865+130_2865+132del
NM_001005918.2:c.2244+475_2244+477del	NP_001005918.1:n.2244+475_2244+477del
NM_001243182.1:c.2532+130_2532+132del	NP_001230111.1:n.2532+130_2532+132del
XM_005266423.2:c.2769+130_2769+132del	XP_005266480.1:n.2769+130_2769+132del
XM_005266424.3:c.2769+130_2769+132del	XP_005266481.1:n.2769+130_2769+132del
XM_005266427.2:c.2631+130_2631+132del	XP_005266484.1:n.2631+130_2631+132del
XM_005266428.1:c.2613+130_2613+132del	XP_005266485.1:n.2613+130_2613+132del
XM_005266430.3:c.2865+130_2865+132del	XP_005266487.1:n.2865+130_2865+132del
XM_005266431.2:c.2829+130_2829+132del	XP_005266488.1:n.2829+130_2829+132del
XM_005266432.2:c.2379+130_2379+132del	XP_005266489.1:n.2379+130_2379+132del
XM_006719837.2:c.2769+130_2769+132del	XP_006719900.1:n.2769+130_2769+132del
XM_006719838.1:c.681+130_681+132del	XP_006719901.1:n.681+130_681+132del
XM_006719839.1:c.681+130_681+132del	XP_006719902.1:n.681+130_681+132del
XM_011535117.1:c.2769+130_2769+132del	XP_011533419.1:n.2769+130_2769+132del
XM_011535118.1:c.2730+475_2730+477del	XP_011533420.1:n.2730+475_2730+477del
XM_011535119.1:c.2865+130_2865+132del	XP_011533421.1:n.2865+130_2865+132del
XM_011535120.1:c.2451+130_2451+132del	XP_011533422.1:n.2451+130_2451+132del
XM_011535121.1:c.2730+475_2730+477del	XP_011533423.1:n.2730+475_2730+477del
XM_011535122.1:c.1533+130_1533+132del	XP_011533424.1:n.1533+130_1533+132del
XR_941601.1:n.3084+130_3084+132del
XR_941602.1:n.3084+130_3084+132del
XR_941603.1:n.3084+130_3084+132del
XR_941604.1:n.3084+130_3084+132del
NM_001330578.1:c.2631+130_2631+132del	NP_001317507.1:n.2631+130_2631+132del
NM_001330579.1:c.2613+130_2613+132del	NP_001317508.1:n.2613+130_2613+132del
XM_005266424.4:c.2769+130_2769+132del	XP_005266481.1:n.2769+130_2769+132del
XM_005266430.4:c.2865+130_2865+132del	XP_005266487.1:n.2865+130_2865+132del
XM_005266431.4:c.2829+130_2829+132del	XP_005266488.1:n.2829+130_2829+132del
XM_006719837.3:c.2769+130_2769+132del	XP_006719900.1:n.2769+130_2769+132del
XM_011535117.3:c.2769+130_2769+132del	XP_011533419.1:n.2769+130_2769+132del
XM_017020627.1:c.2769+130_2769+132del	XP_016876116.1:n.2769+130_2769+132del
NM_000053.4:c.2865+130_2865+132del MANE Select	NP_000044.2:n.2865+130_2865+132del
NM_001005918.3:c.2244+475_2244+477del	NP_001005918.1:n.2244+475_2244+477del
NM_001330579.2:c.2613+130_2613+132del	NP_001317508.1:n.2613+130_2613+132del
NM_001243182.2:c.2532+130_2532+132del	NP_001230111.1:n.2532+130_2532+132del
NM_001330578.2:c.2631+130_2631+132del	NP_001317507.1:n.2631+130_2631+132del