Canonical Allele Identifier: CA2837240920

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946335_51946337delinsTGT , CM000675.2:g.51946335_51946337delinsTGT	GRCh38
NC_000013.10:g.52520471_52520473delinsTGT , CM000675.1:g.52520471_52520473delinsTGT	GRCh37
NC_000013.9:g.51418472_51418474delinsTGT	NCBI36
NG_008806.1:g.70158_70160delinsACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*840_*842delinsACA	ENSP00000489512.2:n.*840_*842delinsACA
ENST00000673864.2:c.*1751_*1753delinsACA	ENSP00000501045.2:n.*1751_*1753delinsACA
ENST00000674147.2:c.2386_2388delinsACA	ENSP00000500964.2:p.Ala796Thr
ENST00000242839.10:c.3007_3009delinsACA MANE Select	ENSP00000242839.5:p.Ala1003Thr
ENST00000344297.9:c.2386_2388delinsACA	ENSP00000342559.5:p.Ala796Thr
ENST00000400366.6:c.2674_2676delinsACA	ENSP00000383217.3:p.Ala892Thr
ENST00000448424.7:c.2755_2757delinsACA	ENSP00000416738.3:p.Ala919Thr
ENST00000673772.1:c.2773_2775delinsACA	ENSP00000501168.1:p.Ala925Thr
ENST00000673867.1:n.1154_1156delinsACA
ENST00000674126.1:n.3370_3372delinsACA
ENST00000674147.1:c.1942_1944delinsACA	ENSP00000500964.1:p.Ala648Thr
ENST00000242839.8:c.3007_3009delinsACA	ENSP00000242839.4:p.Ala1003Thr
ENST00000344297.8:c.2386_2388delinsACA	ENSP00000342559.5:p.Ala796Thr
ENST00000400366.5:c.2674_2676delinsACA	ENSP00000383217.3:p.Ala892Thr
ENST00000400370.8:c.1717_1719delinsACA	ENSP00000383221.3:p.Ala573Thr
ENST00000418097.7:c.2866-2046_2866-2044delinsACA	ENSP00000393343.2:n.2866-2046_2866-2044delinsACA
ENST00000448424.6:c.2773_2775delinsACA	ENSP00000416738.2:p.Ala925Thr
ENST00000466629.1:n.227_229delinsACA
ENST00000634296.1:c.968_970delinsACA
ENST00000634308.1:c.*108_*110delinsACA	ENSP00000489234.1:n.*108_*110delinsACA
ENST00000634620.1:n.3751_3753delinsACA
ENST00000634810.1:n.2352_2354delinsACA
ENST00000634844.1:c.2863_2865delinsACA	ENSP00000489398.1:p.Ala955Thr
ENST00000635406.1:n.353_355delinsACA
NM_000053.3:c.3007_3009delinsACA	NP_000044.2:p.Ala1003Thr
NM_001005918.2:c.2386_2388delinsACA	NP_001005918.1:p.Ala796Thr
NM_001243182.1:c.2674_2676delinsACA	NP_001230111.1:p.Ala892Thr
XM_005266423.2:c.2911_2913delinsACA	XP_005266480.1:p.Ala971Thr
XM_005266424.3:c.2911_2913delinsACA	XP_005266481.1:p.Ala971Thr
XM_005266427.2:c.2773_2775delinsACA	XP_005266484.1:p.Ala925Thr
XM_005266428.1:c.2755_2757delinsACA	XP_005266485.1:p.Ala919Thr
XM_005266430.3:c.3007_3009delinsACA	XP_005266487.1:p.Ala1003Thr
XM_005266431.2:c.2971_2973delinsACA	XP_005266488.1:p.Ala991Thr
XM_005266432.2:c.2521_2523delinsACA	XP_005266489.1:p.Ala841Thr
XM_006719837.2:c.2911_2913delinsACA	XP_006719900.1:p.Ala971Thr
XM_006719838.1:c.823_825delinsACA	XP_006719901.1:p.Ala275Thr
XM_006719839.1:c.823_825delinsACA	XP_006719902.1:p.Ala275Thr
XM_011535117.1:c.2911_2913delinsACA	XP_011533419.1:p.Ala971Thr
XM_011535118.1:c.2872_2874delinsACA	XP_011533420.1:p.Ala958Thr
XM_011535119.1:c.3007_3009delinsACA	XP_011533421.1:p.Ala1003Thr
XM_011535120.1:c.2593_2595delinsACA	XP_011533422.1:p.Ala865Thr
XM_011535121.1:c.2730+3670_2730+3672delinsACA	XP_011533423.1:n.2730+3670_2730+3672delinsACA
XM_011535122.1:c.1675_1677delinsACA	XP_011533424.1:p.Ala559Thr
XR_941601.1:n.3226_3228delinsACA
XR_941602.1:n.3226_3228delinsACA
XR_941603.1:n.3226_3228delinsACA
XR_941604.1:n.3226_3228delinsACA
NM_001330578.1:c.2773_2775delinsACA	NP_001317507.1:p.Ala925Thr
NM_001330579.1:c.2755_2757delinsACA	NP_001317508.1:p.Ala919Thr
XM_005266424.4:c.2911_2913delinsACA	XP_005266481.1:p.Ala971Thr
XM_005266430.4:c.3007_3009delinsACA	XP_005266487.1:p.Ala1003Thr
XM_005266431.4:c.2971_2973delinsACA	XP_005266488.1:p.Ala991Thr
XM_006719837.3:c.2911_2913delinsACA	XP_006719900.1:p.Ala971Thr
XM_011535117.3:c.2911_2913delinsACA	XP_011533419.1:p.Ala971Thr
XM_017020627.1:c.2911_2913delinsACA	XP_016876116.1:p.Ala971Thr
NM_000053.4:c.3007_3009delinsACA MANE Select	NP_000044.2:p.Ala1003Thr
NM_001005918.3:c.2386_2388delinsACA	NP_001005918.1:p.Ala796Thr
NM_001330579.2:c.2755_2757delinsACA	NP_001317508.1:p.Ala919Thr
NM_001243182.2:c.2674_2676delinsACA	NP_001230111.1:p.Ala892Thr
NM_001330578.2:c.2773_2775delinsACA	NP_001317507.1:p.Ala925Thr