Canonical Allele Identifier: CA6988879

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1963653
• ClinVar RCV Id: RCV002716058
• dbSNP Id: rs765377141
• ExAC: 13:52520627 CAG / C
• gnomAD v2: 13-52520627-CAG-C
• gnomAD v3: 13-51946491-CAG-C
• gnomAD v4: 13-51946491-CAG-C
• MyVariant Identifiers: chr13:g.52520628_52520629del (hg19) ; chr13:g.51946493_51946494del (hg38) ; chr13:g.51946492_51946493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946494_51946495del , CM000675.2:g.51946494_51946495del	GRCh38
NC_000013.10:g.52520630_52520631del , CM000675.1:g.52520630_52520631del	GRCh37
NC_000013.9:g.51418631_51418632del	NCBI36
NG_008806.1:g.70002_70003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*699-15_*699-14del	ENSP00000489512.2:n.*699-15_*699-14del
ENST00000673864.2:c.*1610-15_*1610-14del	ENSP00000501045.2:n.*1610-15_*1610-14del
ENST00000674147.2:c.2245-15_2245-14del	ENSP00000500964.2:n.2245-15_2245-14del
ENST00000242839.10:c.2866-15_2866-14del MANE Select	ENSP00000242839.5:n.2866-15_2866-14del
ENST00000344297.9:c.2245-15_2245-14del	ENSP00000342559.5:n.2245-15_2245-14del
ENST00000400366.6:c.2533-15_2533-14del	ENSP00000383217.3:n.2533-15_2533-14del
ENST00000448424.7:c.2614-15_2614-14del	ENSP00000416738.3:n.2614-15_2614-14del
ENST00000673772.1:c.2632-15_2632-14del	ENSP00000501168.1:n.2632-15_2632-14del
ENST00000673867.1:n.998_999del
ENST00000674126.1:n.3214_3215del
ENST00000674147.1:c.1801-15_1801-14del	ENSP00000500964.1:n.1801-15_1801-14del
ENST00000242839.8:c.2866-15_2866-14del	ENSP00000242839.4:n.2866-15_2866-14del
ENST00000344297.8:c.2245-15_2245-14del	ENSP00000342559.5:n.2245-15_2245-14del
ENST00000400366.5:c.2533-15_2533-14del	ENSP00000383217.3:n.2533-15_2533-14del
ENST00000400370.8:c.1576-15_1576-14del	ENSP00000383221.3:n.1576-15_1576-14del
ENST00000418097.7:c.2866-2202_2866-2201del	ENSP00000393343.2:n.2866-2202_2866-2201del
ENST00000448424.6:c.2632-15_2632-14del	ENSP00000416738.2:n.2632-15_2632-14del
ENST00000466629.1:n.71_72del
ENST00000634296.1:c.827-15_827-14del
ENST00000634308.1:c.2652-15_2652-14del	ENSP00000489234.1:n.2652-15_2652-14del
ENST00000634620.1:n.3610-15_3610-14del
ENST00000634810.1:n.2211-15_2211-14del
ENST00000634844.1:c.2722-15_2722-14del	ENSP00000489398.1:n.2722-15_2722-14del
ENST00000635406.1:n.212-15_212-14del
NM_000053.3:c.2866-15_2866-14del	NP_000044.2:n.2866-15_2866-14del
NM_001005918.2:c.2245-15_2245-14del	NP_001005918.1:n.2245-15_2245-14del
NM_001243182.1:c.2533-15_2533-14del	NP_001230111.1:n.2533-15_2533-14del
XM_005266423.2:c.2770-15_2770-14del	XP_005266480.1:n.2770-15_2770-14del
XM_005266424.3:c.2770-15_2770-14del	XP_005266481.1:n.2770-15_2770-14del
XM_005266427.2:c.2632-15_2632-14del	XP_005266484.1:n.2632-15_2632-14del
XM_005266428.1:c.2614-15_2614-14del	XP_005266485.1:n.2614-15_2614-14del
XM_005266430.3:c.2866-15_2866-14del	XP_005266487.1:n.2866-15_2866-14del
XM_005266431.2:c.2830-15_2830-14del	XP_005266488.1:n.2830-15_2830-14del
XM_005266432.2:c.2380-15_2380-14del	XP_005266489.1:n.2380-15_2380-14del
XM_006719837.2:c.2770-15_2770-14del	XP_006719900.1:n.2770-15_2770-14del
XM_006719838.1:c.682-15_682-14del	XP_006719901.1:n.682-15_682-14del
XM_006719839.1:c.682-15_682-14del	XP_006719902.1:n.682-15_682-14del
XM_011535117.1:c.2770-15_2770-14del	XP_011533419.1:n.2770-15_2770-14del
XM_011535118.1:c.2731-15_2731-14del	XP_011533420.1:n.2731-15_2731-14del
XM_011535119.1:c.2866-15_2866-14del	XP_011533421.1:n.2866-15_2866-14del
XM_011535120.1:c.2452-15_2452-14del	XP_011533422.1:n.2452-15_2452-14del
XM_011535121.1:c.2730+3514_2730+3515del	XP_011533423.1:n.2730+3514_2730+3515del
XM_011535122.1:c.1534-15_1534-14del	XP_011533424.1:n.1534-15_1534-14del
XR_941601.1:n.3085-15_3085-14del
XR_941602.1:n.3085-15_3085-14del
XR_941603.1:n.3085-15_3085-14del
XR_941604.1:n.3085-15_3085-14del
NM_001330578.1:c.2632-15_2632-14del	NP_001317507.1:n.2632-15_2632-14del
NM_001330579.1:c.2614-15_2614-14del	NP_001317508.1:n.2614-15_2614-14del
XM_005266424.4:c.2770-15_2770-14del	XP_005266481.1:n.2770-15_2770-14del
XM_005266430.4:c.2866-15_2866-14del	XP_005266487.1:n.2866-15_2866-14del
XM_005266431.4:c.2830-15_2830-14del	XP_005266488.1:n.2830-15_2830-14del
XM_006719837.3:c.2770-15_2770-14del	XP_006719900.1:n.2770-15_2770-14del
XM_011535117.3:c.2770-15_2770-14del	XP_011533419.1:n.2770-15_2770-14del
XM_017020627.1:c.2770-15_2770-14del	XP_016876116.1:n.2770-15_2770-14del
NM_000053.4:c.2866-15_2866-14del MANE Select	NP_000044.2:n.2866-15_2866-14del
NM_001005918.3:c.2245-15_2245-14del	NP_001005918.1:n.2245-15_2245-14del
NM_001330579.2:c.2614-15_2614-14del	NP_001317508.1:n.2614-15_2614-14del
NM_001243182.2:c.2533-15_2533-14del	NP_001230111.1:n.2533-15_2533-14del
NM_001330578.2:c.2632-15_2632-14del	NP_001317507.1:n.2632-15_2632-14del