Canonical Allele Identifier: CA250061673

Gene: ATP7B

Linked Data

• dbSNP Id: rs34837836
• MyVariant Identifiers: chr13:g.52539291_52539292insC (hg19) ; chr13:g.51965155_51965156insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965155_51965156insC , CM000675.2:g.51965155_51965156insC	GRCh38
NC_000013.10:g.52539291_52539292insC , CM000675.1:g.52539291_52539292insC	GRCh37
NC_000013.9:g.51437292_51437293insC	NCBI36
NG_008806.1:g.51339_51340insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1708-123_1708-122insG	ENSP00000489512.2:n.1708-123_1708-122insG
ENST00000673864.2:c.*452-123_*452-122insG	ENSP00000501045.2:n.*452-123_*452-122insG
ENST00000674147.2:c.1708-123_1708-122insG	ENSP00000500964.2:n.1708-123_1708-122insG
ENST00000242839.10:c.1708-123_1708-122insG MANE Select	ENSP00000242839.5:n.1708-123_1708-122insG
ENST00000344297.9:c.1708-123_1708-122insG	ENSP00000342559.5:n.1708-123_1708-122insG
ENST00000400366.6:c.1375-123_1375-122insG	ENSP00000383217.3:n.1375-123_1375-122insG
ENST00000448424.7:c.1708-123_1708-122insG	ENSP00000416738.3:n.1708-123_1708-122insG
ENST00000483772.2:n.464-123_464-122insG
ENST00000673772.1:c.1708-123_1708-122insG	ENSP00000501168.1:n.1708-123_1708-122insG
ENST00000673864.1:c.902-123_902-122insG	ENSP00000501045.1:n.902-123_902-122insG
ENST00000674147.1:c.1264-123_1264-122insG	ENSP00000500964.1:n.1264-123_1264-122insG
ENST00000242839.8:c.1708-123_1708-122insG	ENSP00000242839.4:n.1708-123_1708-122insG
ENST00000344297.8:c.1708-123_1708-122insG	ENSP00000342559.5:n.1708-123_1708-122insG
ENST00000400366.5:c.1375-123_1375-122insG	ENSP00000383217.3:n.1375-123_1375-122insG
ENST00000400370.8:c.1285+8779_1285+8780insG	ENSP00000383221.3:n.1285+8779_1285+8780insG
ENST00000418097.7:c.1708-123_1708-122insG	ENSP00000393343.2:n.1708-123_1708-122insG
ENST00000448424.6:c.1708-123_1708-122insG	ENSP00000416738.2:n.1708-123_1708-122insG
ENST00000482841.6:n.1664+5336_1664+5337insG
ENST00000483772.1:n.464-123_464-122insG
ENST00000634308.1:c.1708-123_1708-122insG	ENSP00000489234.1:n.1708-123_1708-122insG
ENST00000634620.1:n.200-123_200-122insG
ENST00000634844.1:c.1708-123_1708-122insG	ENSP00000489398.1:n.1708-123_1708-122insG
ENST00000635406.1:n.212-18678_212-18677insG
NM_000053.3:c.1708-123_1708-122insG	NP_000044.2:n.1708-123_1708-122insG
NM_001005918.2:c.1708-123_1708-122insG	NP_001005918.1:n.1708-123_1708-122insG
NM_001243182.1:c.1375-123_1375-122insG	NP_001230111.1:n.1375-123_1375-122insG
XM_005266423.2:c.1612-123_1612-122insG	XP_005266480.1:n.1612-123_1612-122insG
XM_005266424.3:c.1612-123_1612-122insG	XP_005266481.1:n.1612-123_1612-122insG
XM_005266427.2:c.1708-123_1708-122insG	XP_005266484.1:n.1708-123_1708-122insG
XM_005266428.1:c.1708-123_1708-122insG	XP_005266485.1:n.1708-123_1708-122insG
XM_005266430.3:c.1708-123_1708-122insG	XP_005266487.1:n.1708-123_1708-122insG
XM_005266431.2:c.1672-123_1672-122insG	XP_005266488.1:n.1672-123_1672-122insG
XM_005266432.2:c.1708-123_1708-122insG	XP_005266489.1:n.1708-123_1708-122insG
XM_006719837.2:c.1612-123_1612-122insG	XP_006719900.1:n.1612-123_1612-122insG
XM_011535117.1:c.1612-123_1612-122insG	XP_011533419.1:n.1612-123_1612-122insG
XM_011535118.1:c.1708-123_1708-122insG	XP_011533420.1:n.1708-123_1708-122insG
XM_011535119.1:c.1708-123_1708-122insG	XP_011533421.1:n.1708-123_1708-122insG
XM_011535120.1:c.1707+3288_1707+3289insG	XP_011533422.1:n.1707+3288_1707+3289insG
XM_011535121.1:c.1708-123_1708-122insG	XP_011533423.1:n.1708-123_1708-122insG
XM_011535122.1:c.376-123_376-122insG	XP_011533424.1:n.376-123_376-122insG
XR_941601.1:n.1927-123_1927-122insG
XR_941602.1:n.1927-123_1927-122insG
XR_941603.1:n.1927-123_1927-122insG
XR_941604.1:n.1927-123_1927-122insG
NM_001330578.1:c.1708-123_1708-122insG	NP_001317507.1:n.1708-123_1708-122insG
NM_001330579.1:c.1708-123_1708-122insG	NP_001317508.1:n.1708-123_1708-122insG
XM_005266424.4:c.1612-123_1612-122insG	XP_005266481.1:n.1612-123_1612-122insG
XM_005266430.4:c.1708-123_1708-122insG	XP_005266487.1:n.1708-123_1708-122insG
XM_005266431.4:c.1672-123_1672-122insG	XP_005266488.1:n.1672-123_1672-122insG
XM_006719837.3:c.1612-123_1612-122insG	XP_006719900.1:n.1612-123_1612-122insG
XM_011535117.3:c.1612-123_1612-122insG	XP_011533419.1:n.1612-123_1612-122insG
XM_017020627.1:c.1612-123_1612-122insG	XP_016876116.1:n.1612-123_1612-122insG
NM_000053.4:c.1708-123_1708-122insG MANE Select	NP_000044.2:n.1708-123_1708-122insG
NM_001005918.3:c.1708-123_1708-122insG	NP_001005918.1:n.1708-123_1708-122insG
NM_001330579.2:c.1708-123_1708-122insG	NP_001317508.1:n.1708-123_1708-122insG
NM_001243182.2:c.1375-123_1375-122insG	NP_001230111.1:n.1375-123_1375-122insG
NM_001330578.2:c.1708-123_1708-122insG	NP_001317507.1:n.1708-123_1708-122insG