Canonical Allele Identifier: CA6989005

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2151687
• ClinVar RCV Id: RCV003061468
• dbSNP Id: rs756991677
• ExAC: 13:52524553 T / TATCACTCACATGGCCACTC
• gnomAD v2: 13-52524553-T-TATCACTCACATGGCCACTC
• gnomAD v4: 13-51950417-T-TATCACTCACATGGCCACTC
• MyVariant Identifiers: chr13:g.52524553_52524554insATCACTCACATGGCCACTC (hg19) ; chr13:g.51950417_51950418insATCACTCACATGGCCACTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950420_51950438dup , CM000675.2:g.51950420_51950438dup	GRCh38
NC_000013.10:g.52524556_52524574dup , CM000675.1:g.52524556_52524574dup	GRCh37
NC_000013.9:g.51422557_51422575dup	NCBI36
NG_008806.1:g.66059_66077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*281-37_*281-19dup	ENSP00000489512.2:n.*281-37_*281-19dup
ENST00000673864.2:c.*1192-37_*1192-19dup	ENSP00000501045.2:n.*1192-37_*1192-19dup
ENST00000674147.2:c.1962-37_1962-19dup	ENSP00000500964.2:n.1962-37_1962-19dup
ENST00000242839.10:c.2448-37_2448-19dup MANE Select	ENSP00000242839.5:n.2448-37_2448-19dup
ENST00000344297.9:c.1962-37_1962-19dup	ENSP00000342559.5:n.1962-37_1962-19dup
ENST00000400366.6:c.2115-37_2115-19dup	ENSP00000383217.3:n.2115-37_2115-19dup
ENST00000448424.7:c.2196-37_2196-19dup	ENSP00000416738.3:n.2196-37_2196-19dup
ENST00000673772.1:c.2214-37_2214-19dup	ENSP00000501168.1:n.2214-37_2214-19dup
ENST00000674147.1:c.1518-37_1518-19dup	ENSP00000500964.1:n.1518-37_1518-19dup
ENST00000242839.8:c.2448-37_2448-19dup	ENSP00000242839.4:n.2448-37_2448-19dup
ENST00000344297.8:c.1962-37_1962-19dup	ENSP00000342559.5:n.1962-37_1962-19dup
ENST00000400366.5:c.2115-37_2115-19dup	ENSP00000383217.3:n.2115-37_2115-19dup
ENST00000400370.8:c.1286-275_1286-257dup	ENSP00000383221.3:n.1286-275_1286-257dup
ENST00000418097.7:c.2448-37_2448-19dup	ENSP00000393343.2:n.2448-37_2448-19dup
ENST00000448424.6:c.2214-37_2214-19dup	ENSP00000416738.2:n.2214-37_2214-19dup
ENST00000634296.1:c.409-37_409-19dup
ENST00000634308.1:c.2214-37_2214-19dup	ENSP00000489234.1:n.2214-37_2214-19dup
ENST00000634620.1:n.3246-37_3246-19dup
ENST00000634810.1:n.1793-37_1793-19dup
ENST00000634844.1:c.2304-37_2304-19dup	ENSP00000489398.1:n.2304-37_2304-19dup
ENST00000635406.1:n.212-3958_212-3940dup
NM_000053.3:c.2448-37_2448-19dup	NP_000044.2:n.2448-37_2448-19dup
NM_001005918.2:c.1962-37_1962-19dup	NP_001005918.1:n.1962-37_1962-19dup
NM_001243182.1:c.2115-37_2115-19dup	NP_001230111.1:n.2115-37_2115-19dup
XM_005266423.2:c.2352-37_2352-19dup	XP_005266480.1:n.2352-37_2352-19dup
XM_005266424.3:c.2352-37_2352-19dup	XP_005266481.1:n.2352-37_2352-19dup
XM_005266427.2:c.2214-37_2214-19dup	XP_005266484.1:n.2214-37_2214-19dup
XM_005266428.1:c.2196-37_2196-19dup	XP_005266485.1:n.2196-37_2196-19dup
XM_005266430.3:c.2448-37_2448-19dup	XP_005266487.1:n.2448-37_2448-19dup
XM_005266431.2:c.2412-37_2412-19dup	XP_005266488.1:n.2412-37_2412-19dup
XM_005266432.2:c.1962-37_1962-19dup	XP_005266489.1:n.1962-37_1962-19dup
XM_006719837.2:c.2352-37_2352-19dup	XP_006719900.1:n.2352-37_2352-19dup
XM_006719838.1:c.264-37_264-19dup	XP_006719901.1:n.264-37_264-19dup
XM_006719839.1:c.264-37_264-19dup	XP_006719902.1:n.264-37_264-19dup
XM_011535117.1:c.2352-37_2352-19dup	XP_011533419.1:n.2352-37_2352-19dup
XM_011535118.1:c.2448-37_2448-19dup	XP_011533420.1:n.2448-37_2448-19dup
XM_011535119.1:c.2448-37_2448-19dup	XP_011533421.1:n.2448-37_2448-19dup
XM_011535120.1:c.2034-37_2034-19dup	XP_011533422.1:n.2034-37_2034-19dup
XM_011535121.1:c.2448-37_2448-19dup	XP_011533423.1:n.2448-37_2448-19dup
XM_011535122.1:c.1116-37_1116-19dup	XP_011533424.1:n.1116-37_1116-19dup
XR_941601.1:n.2667-37_2667-19dup
XR_941602.1:n.2667-37_2667-19dup
XR_941603.1:n.2667-37_2667-19dup
XR_941604.1:n.2667-37_2667-19dup
NM_001330578.1:c.2214-37_2214-19dup	NP_001317507.1:n.2214-37_2214-19dup
NM_001330579.1:c.2196-37_2196-19dup	NP_001317508.1:n.2196-37_2196-19dup
XM_005266424.4:c.2352-37_2352-19dup	XP_005266481.1:n.2352-37_2352-19dup
XM_005266430.4:c.2448-37_2448-19dup	XP_005266487.1:n.2448-37_2448-19dup
XM_005266431.4:c.2412-37_2412-19dup	XP_005266488.1:n.2412-37_2412-19dup
XM_006719837.3:c.2352-37_2352-19dup	XP_006719900.1:n.2352-37_2352-19dup
XM_011535117.3:c.2352-37_2352-19dup	XP_011533419.1:n.2352-37_2352-19dup
XM_017020627.1:c.2352-37_2352-19dup	XP_016876116.1:n.2352-37_2352-19dup
NM_000053.4:c.2448-37_2448-19dup MANE Select	NP_000044.2:n.2448-37_2448-19dup
NM_001005918.3:c.1962-37_1962-19dup	NP_001005918.1:n.1962-37_1962-19dup
NM_001330579.2:c.2196-37_2196-19dup	NP_001317508.1:n.2196-37_2196-19dup
NM_001243182.2:c.2115-37_2115-19dup	NP_001230111.1:n.2115-37_2115-19dup
NM_001330578.2:c.2214-37_2214-19dup	NP_001317507.1:n.2214-37_2214-19dup