Canonical Allele Identifier: CA609969671

Gene: ATP7B

Linked Data

• dbSNP Id: rs1363700156
• gnomAD v2: 13-52539207-A-ATCAAGGAAAGCCTGTGAAAGCCAGTCCAGGGAGTC
• gnomAD v3: 13-51965071-A-ATCAAGGAAAGCCTGTGAAAGCCAGTCCAGGGAGTC
• gnomAD v4: 13-51965071-A-ATCAAGGAAAGCCTGTGAAAGCCAGTCCAGGGAGTC
• MyVariant Identifiers: chr13:g.52539207_52539208insTCAAGGAAAGCCTGTGAAAGCCAGTCCAGGGAGTC (hg19) ; chr13:g.51965071_51965072insTCAAGGAAAGCCTGTGAAAGCCAGTCCAGGGAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965073_51965107dup , CM000675.2:g.51965073_51965107dup	GRCh38
NC_000013.10:g.52539209_52539243dup , CM000675.1:g.52539209_52539243dup	GRCh37
NC_000013.9:g.51437210_51437244dup	NCBI36
NG_008806.1:g.51389_51423dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1708-73_1708-39dup	ENSP00000489512.2:n.1708-73_1708-39dup
ENST00000673864.2:c.*452-73_*452-39dup	ENSP00000501045.2:n.*452-73_*452-39dup
ENST00000674147.2:c.1708-73_1708-39dup	ENSP00000500964.2:n.1708-73_1708-39dup
ENST00000242839.10:c.1708-73_1708-39dup MANE Select	ENSP00000242839.5:n.1708-73_1708-39dup
ENST00000344297.9:c.1708-73_1708-39dup	ENSP00000342559.5:n.1708-73_1708-39dup
ENST00000400366.6:c.1375-73_1375-39dup	ENSP00000383217.3:n.1375-73_1375-39dup
ENST00000448424.7:c.1708-73_1708-39dup	ENSP00000416738.3:n.1708-73_1708-39dup
ENST00000483772.2:n.464-73_464-39dup
ENST00000673772.1:c.1708-73_1708-39dup	ENSP00000501168.1:n.1708-73_1708-39dup
ENST00000673864.1:c.902-73_902-39dup	ENSP00000501045.1:n.902-73_902-39dup
ENST00000674147.1:c.1264-73_1264-39dup	ENSP00000500964.1:n.1264-73_1264-39dup
ENST00000242839.8:c.1708-73_1708-39dup	ENSP00000242839.4:n.1708-73_1708-39dup
ENST00000344297.8:c.1708-73_1708-39dup	ENSP00000342559.5:n.1708-73_1708-39dup
ENST00000400366.5:c.1375-73_1375-39dup	ENSP00000383217.3:n.1375-73_1375-39dup
ENST00000400370.8:c.1285+8829_1285+8863dup	ENSP00000383221.3:n.1285+8829_1285+8863dup
ENST00000418097.7:c.1708-73_1708-39dup	ENSP00000393343.2:n.1708-73_1708-39dup
ENST00000448424.6:c.1708-73_1708-39dup	ENSP00000416738.2:n.1708-73_1708-39dup
ENST00000482841.6:n.1664+5386_1664+5420dup
ENST00000483772.1:n.464-73_464-39dup
ENST00000634308.1:c.1708-73_1708-39dup	ENSP00000489234.1:n.1708-73_1708-39dup
ENST00000634620.1:n.200-73_200-39dup
ENST00000634844.1:c.1708-73_1708-39dup	ENSP00000489398.1:n.1708-73_1708-39dup
ENST00000635406.1:n.212-18628_212-18594dup
NM_000053.3:c.1708-73_1708-39dup	NP_000044.2:n.1708-73_1708-39dup
NM_001005918.2:c.1708-73_1708-39dup	NP_001005918.1:n.1708-73_1708-39dup
NM_001243182.1:c.1375-73_1375-39dup	NP_001230111.1:n.1375-73_1375-39dup
XM_005266423.2:c.1612-73_1612-39dup	XP_005266480.1:n.1612-73_1612-39dup
XM_005266424.3:c.1612-73_1612-39dup	XP_005266481.1:n.1612-73_1612-39dup
XM_005266427.2:c.1708-73_1708-39dup	XP_005266484.1:n.1708-73_1708-39dup
XM_005266428.1:c.1708-73_1708-39dup	XP_005266485.1:n.1708-73_1708-39dup
XM_005266430.3:c.1708-73_1708-39dup	XP_005266487.1:n.1708-73_1708-39dup
XM_005266431.2:c.1672-73_1672-39dup	XP_005266488.1:n.1672-73_1672-39dup
XM_005266432.2:c.1708-73_1708-39dup	XP_005266489.1:n.1708-73_1708-39dup
XM_006719837.2:c.1612-73_1612-39dup	XP_006719900.1:n.1612-73_1612-39dup
XM_011535117.1:c.1612-73_1612-39dup	XP_011533419.1:n.1612-73_1612-39dup
XM_011535118.1:c.1708-73_1708-39dup	XP_011533420.1:n.1708-73_1708-39dup
XM_011535119.1:c.1708-73_1708-39dup	XP_011533421.1:n.1708-73_1708-39dup
XM_011535120.1:c.1707+3338_1707+3372dup	XP_011533422.1:n.1707+3338_1707+3372dup
XM_011535121.1:c.1708-73_1708-39dup	XP_011533423.1:n.1708-73_1708-39dup
XM_011535122.1:c.376-73_376-39dup	XP_011533424.1:n.376-73_376-39dup
XR_941601.1:n.1927-73_1927-39dup
XR_941602.1:n.1927-73_1927-39dup
XR_941603.1:n.1927-73_1927-39dup
XR_941604.1:n.1927-73_1927-39dup
NM_001330578.1:c.1708-73_1708-39dup	NP_001317507.1:n.1708-73_1708-39dup
NM_001330579.1:c.1708-73_1708-39dup	NP_001317508.1:n.1708-73_1708-39dup
XM_005266424.4:c.1612-73_1612-39dup	XP_005266481.1:n.1612-73_1612-39dup
XM_005266430.4:c.1708-73_1708-39dup	XP_005266487.1:n.1708-73_1708-39dup
XM_005266431.4:c.1672-73_1672-39dup	XP_005266488.1:n.1672-73_1672-39dup
XM_006719837.3:c.1612-73_1612-39dup	XP_006719900.1:n.1612-73_1612-39dup
XM_011535117.3:c.1612-73_1612-39dup	XP_011533419.1:n.1612-73_1612-39dup
XM_017020627.1:c.1612-73_1612-39dup	XP_016876116.1:n.1612-73_1612-39dup
NM_000053.4:c.1708-73_1708-39dup MANE Select	NP_000044.2:n.1708-73_1708-39dup
NM_001005918.3:c.1708-73_1708-39dup	NP_001005918.1:n.1708-73_1708-39dup
NM_001330579.2:c.1708-73_1708-39dup	NP_001317508.1:n.1708-73_1708-39dup
NM_001243182.2:c.1375-73_1375-39dup	NP_001230111.1:n.1375-73_1375-39dup
NM_001330578.2:c.1708-73_1708-39dup	NP_001317507.1:n.1708-73_1708-39dup