Canonical Allele Identifier: CA2623118668

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51950248-GGAACATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950249_51950256del , CM000675.2:g.51950249_51950256del	GRCh38
NC_000013.10:g.52524385_52524392del , CM000675.1:g.52524385_52524392del	GRCh37
NC_000013.9:g.51422386_51422393del	NCBI36
NG_008806.1:g.66239_66246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*408+16_*408+23del	ENSP00000489512.2:n.*408+16_*408+23del
ENST00000673864.2:c.*1319+16_*1319+23del	ENSP00000501045.2:n.*1319+16_*1319+23del
ENST00000674147.2:c.2089+16_2089+23del	ENSP00000500964.2:n.2089+16_2089+23del
ENST00000242839.10:c.2575+16_2575+23del MANE Select	ENSP00000242839.5:n.2575+16_2575+23del
ENST00000344297.9:c.2089+16_2089+23del	ENSP00000342559.5:n.2089+16_2089+23del
ENST00000400366.6:c.2242+16_2242+23del	ENSP00000383217.3:n.2242+16_2242+23del
ENST00000448424.7:c.2323+16_2323+23del	ENSP00000416738.3:n.2323+16_2323+23del
ENST00000673772.1:c.2341+16_2341+23del	ENSP00000501168.1:n.2341+16_2341+23del
ENST00000674147.1:c.1645+16_1645+23del	ENSP00000500964.1:n.1645+16_1645+23del
ENST00000242839.8:c.2575+16_2575+23del	ENSP00000242839.4:n.2575+16_2575+23del
ENST00000344297.8:c.2089+16_2089+23del	ENSP00000342559.5:n.2089+16_2089+23del
ENST00000400366.5:c.2242+16_2242+23del	ENSP00000383217.3:n.2242+16_2242+23del
ENST00000400370.8:c.1286-95_1286-88del	ENSP00000383221.3:n.1286-95_1286-88del
ENST00000418097.7:c.2575+16_2575+23del	ENSP00000393343.2:n.2575+16_2575+23del
ENST00000448424.6:c.2341+16_2341+23del	ENSP00000416738.2:n.2341+16_2341+23del
ENST00000634296.1:c.536+16_536+23del
ENST00000634308.1:c.2341+16_2341+23del	ENSP00000489234.1:n.2341+16_2341+23del
ENST00000634620.1:n.3373+16_3373+23del
ENST00000634810.1:n.1920+16_1920+23del
ENST00000634844.1:c.2431+16_2431+23del	ENSP00000489398.1:n.2431+16_2431+23del
ENST00000635406.1:n.212-3778_212-3771del
NM_000053.3:c.2575+16_2575+23del	NP_000044.2:n.2575+16_2575+23del
NM_001005918.2:c.2089+16_2089+23del	NP_001005918.1:n.2089+16_2089+23del
NM_001243182.1:c.2242+16_2242+23del	NP_001230111.1:n.2242+16_2242+23del
XM_005266423.2:c.2479+16_2479+23del	XP_005266480.1:n.2479+16_2479+23del
XM_005266424.3:c.2479+16_2479+23del	XP_005266481.1:n.2479+16_2479+23del
XM_005266427.2:c.2341+16_2341+23del	XP_005266484.1:n.2341+16_2341+23del
XM_005266428.1:c.2323+16_2323+23del	XP_005266485.1:n.2323+16_2323+23del
XM_005266430.3:c.2575+16_2575+23del	XP_005266487.1:n.2575+16_2575+23del
XM_005266431.2:c.2539+16_2539+23del	XP_005266488.1:n.2539+16_2539+23del
XM_005266432.2:c.2089+16_2089+23del	XP_005266489.1:n.2089+16_2089+23del
XM_006719837.2:c.2479+16_2479+23del	XP_006719900.1:n.2479+16_2479+23del
XM_006719838.1:c.391+16_391+23del	XP_006719901.1:n.391+16_391+23del
XM_006719839.1:c.391+16_391+23del	XP_006719902.1:n.391+16_391+23del
XM_011535117.1:c.2479+16_2479+23del	XP_011533419.1:n.2479+16_2479+23del
XM_011535118.1:c.2575+16_2575+23del	XP_011533420.1:n.2575+16_2575+23del
XM_011535119.1:c.2575+16_2575+23del	XP_011533421.1:n.2575+16_2575+23del
XM_011535120.1:c.2161+16_2161+23del	XP_011533422.1:n.2161+16_2161+23del
XM_011535121.1:c.2575+16_2575+23del	XP_011533423.1:n.2575+16_2575+23del
XM_011535122.1:c.1243+16_1243+23del	XP_011533424.1:n.1243+16_1243+23del
XR_941601.1:n.2794+16_2794+23del
XR_941602.1:n.2794+16_2794+23del
XR_941603.1:n.2794+16_2794+23del
XR_941604.1:n.2794+16_2794+23del
NM_001330578.1:c.2341+16_2341+23del	NP_001317507.1:n.2341+16_2341+23del
NM_001330579.1:c.2323+16_2323+23del	NP_001317508.1:n.2323+16_2323+23del
XM_005266424.4:c.2479+16_2479+23del	XP_005266481.1:n.2479+16_2479+23del
XM_005266430.4:c.2575+16_2575+23del	XP_005266487.1:n.2575+16_2575+23del
XM_005266431.4:c.2539+16_2539+23del	XP_005266488.1:n.2539+16_2539+23del
XM_006719837.3:c.2479+16_2479+23del	XP_006719900.1:n.2479+16_2479+23del
XM_011535117.3:c.2479+16_2479+23del	XP_011533419.1:n.2479+16_2479+23del
XM_017020627.1:c.2479+16_2479+23del	XP_016876116.1:n.2479+16_2479+23del
NM_000053.4:c.2575+16_2575+23del MANE Select	NP_000044.2:n.2575+16_2575+23del
NM_001005918.3:c.2089+16_2089+23del	NP_001005918.1:n.2089+16_2089+23del
NM_001330579.2:c.2323+16_2323+23del	NP_001317508.1:n.2323+16_2323+23del
NM_001243182.2:c.2242+16_2242+23del	NP_001230111.1:n.2242+16_2242+23del
NM_001330578.2:c.2341+16_2341+23del	NP_001317507.1:n.2341+16_2341+23del