Canonical Allele Identifier: CA2091542213

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950240_51950241delinsCT , CM000675.2:g.51950240_51950241delinsCT	GRCh38
NC_000013.10:g.52524376_52524377delinsCT , CM000675.1:g.52524376_52524377delinsCT	GRCh37
NC_000013.9:g.51422377_51422378delinsCT	NCBI36
NG_008806.1:g.66254_66255delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*408+31_*408+32delinsAG	ENSP00000489512.2:n.*408+31_*408+32delinsAG
ENST00000673864.2:c.*1319+31_*1319+32delinsAG	ENSP00000501045.2:n.*1319+31_*1319+32delinsAG
ENST00000674147.2:c.2089+31_2089+32delinsAG	ENSP00000500964.2:n.2089+31_2089+32delinsAG
ENST00000242839.10:c.2575+31_2575+32delinsAG MANE Select	ENSP00000242839.5:n.2575+31_2575+32delinsAG
ENST00000344297.9:c.2089+31_2089+32delinsAG	ENSP00000342559.5:n.2089+31_2089+32delinsAG
ENST00000400366.6:c.2242+31_2242+32delinsAG	ENSP00000383217.3:n.2242+31_2242+32delinsAG
ENST00000448424.7:c.2323+31_2323+32delinsAG	ENSP00000416738.3:n.2323+31_2323+32delinsAG
ENST00000673772.1:c.2341+31_2341+32delinsAG	ENSP00000501168.1:n.2341+31_2341+32delinsAG
ENST00000674147.1:c.1645+31_1645+32delinsAG	ENSP00000500964.1:n.1645+31_1645+32delinsAG
ENST00000242839.8:c.2575+31_2575+32delinsAG	ENSP00000242839.4:n.2575+31_2575+32delinsAG
ENST00000344297.8:c.2089+31_2089+32delinsAG	ENSP00000342559.5:n.2089+31_2089+32delinsAG
ENST00000400366.5:c.2242+31_2242+32delinsAG	ENSP00000383217.3:n.2242+31_2242+32delinsAG
ENST00000400370.8:c.1286-80_1286-79delinsAG	ENSP00000383221.3:n.1286-80_1286-79delinsAG
ENST00000418097.7:c.2575+31_2575+32delinsAG	ENSP00000393343.2:n.2575+31_2575+32delinsAG
ENST00000448424.6:c.2341+31_2341+32delinsAG	ENSP00000416738.2:n.2341+31_2341+32delinsAG
ENST00000634296.1:c.536+31_536+32delinsAG
ENST00000634308.1:c.2341+31_2341+32delinsAG	ENSP00000489234.1:n.2341+31_2341+32delinsAG
ENST00000634620.1:n.3373+31_3373+32delinsAG
ENST00000634810.1:n.1920+31_1920+32delinsAG
ENST00000634844.1:c.2431+31_2431+32delinsAG	ENSP00000489398.1:n.2431+31_2431+32delinsAG
ENST00000635406.1:n.212-3763_212-3762delinsAG
NM_000053.3:c.2575+31_2575+32delinsAG	NP_000044.2:n.2575+31_2575+32delinsAG
NM_001005918.2:c.2089+31_2089+32delinsAG	NP_001005918.1:n.2089+31_2089+32delinsAG
NM_001243182.1:c.2242+31_2242+32delinsAG	NP_001230111.1:n.2242+31_2242+32delinsAG
XM_005266423.2:c.2479+31_2479+32delinsAG	XP_005266480.1:n.2479+31_2479+32delinsAG
XM_005266424.3:c.2479+31_2479+32delinsAG	XP_005266481.1:n.2479+31_2479+32delinsAG
XM_005266427.2:c.2341+31_2341+32delinsAG	XP_005266484.1:n.2341+31_2341+32delinsAG
XM_005266428.1:c.2323+31_2323+32delinsAG	XP_005266485.1:n.2323+31_2323+32delinsAG
XM_005266430.3:c.2575+31_2575+32delinsAG	XP_005266487.1:n.2575+31_2575+32delinsAG
XM_005266431.2:c.2539+31_2539+32delinsAG	XP_005266488.1:n.2539+31_2539+32delinsAG
XM_005266432.2:c.2089+31_2089+32delinsAG	XP_005266489.1:n.2089+31_2089+32delinsAG
XM_006719837.2:c.2479+31_2479+32delinsAG	XP_006719900.1:n.2479+31_2479+32delinsAG
XM_006719838.1:c.391+31_391+32delinsAG	XP_006719901.1:n.391+31_391+32delinsAG
XM_006719839.1:c.391+31_391+32delinsAG	XP_006719902.1:n.391+31_391+32delinsAG
XM_011535117.1:c.2479+31_2479+32delinsAG	XP_011533419.1:n.2479+31_2479+32delinsAG
XM_011535118.1:c.2575+31_2575+32delinsAG	XP_011533420.1:n.2575+31_2575+32delinsAG
XM_011535119.1:c.2575+31_2575+32delinsAG	XP_011533421.1:n.2575+31_2575+32delinsAG
XM_011535120.1:c.2161+31_2161+32delinsAG	XP_011533422.1:n.2161+31_2161+32delinsAG
XM_011535121.1:c.2575+31_2575+32delinsAG	XP_011533423.1:n.2575+31_2575+32delinsAG
XM_011535122.1:c.1243+31_1243+32delinsAG	XP_011533424.1:n.1243+31_1243+32delinsAG
XR_941601.1:n.2794+31_2794+32delinsAG
XR_941602.1:n.2794+31_2794+32delinsAG
XR_941603.1:n.2794+31_2794+32delinsAG
XR_941604.1:n.2794+31_2794+32delinsAG
NM_001330578.1:c.2341+31_2341+32delinsAG	NP_001317507.1:n.2341+31_2341+32delinsAG
NM_001330579.1:c.2323+31_2323+32delinsAG	NP_001317508.1:n.2323+31_2323+32delinsAG
XM_005266424.4:c.2479+31_2479+32delinsAG	XP_005266481.1:n.2479+31_2479+32delinsAG
XM_005266430.4:c.2575+31_2575+32delinsAG	XP_005266487.1:n.2575+31_2575+32delinsAG
XM_005266431.4:c.2539+31_2539+32delinsAG	XP_005266488.1:n.2539+31_2539+32delinsAG
XM_006719837.3:c.2479+31_2479+32delinsAG	XP_006719900.1:n.2479+31_2479+32delinsAG
XM_011535117.3:c.2479+31_2479+32delinsAG	XP_011533419.1:n.2479+31_2479+32delinsAG
XM_017020627.1:c.2479+31_2479+32delinsAG	XP_016876116.1:n.2479+31_2479+32delinsAG
NM_000053.4:c.2575+31_2575+32delinsAG MANE Select	NP_000044.2:n.2575+31_2575+32delinsAG
NM_001005918.3:c.2089+31_2089+32delinsAG	NP_001005918.1:n.2089+31_2089+32delinsAG
NM_001330579.2:c.2323+31_2323+32delinsAG	NP_001317508.1:n.2323+31_2323+32delinsAG
NM_001243182.2:c.2242+31_2242+32delinsAG	NP_001230111.1:n.2242+31_2242+32delinsAG
NM_001330578.2:c.2341+31_2341+32delinsAG	NP_001317507.1:n.2341+31_2341+32delinsAG