Canonical Allele Identifier: CA2575420478

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946371_51946372del , CM000675.2:g.51946371_51946372del	GRCh38
NC_000013.10:g.52520507_52520508del , CM000675.1:g.52520507_52520508del	GRCh37
NC_000013.9:g.51418508_51418509del	NCBI36
NG_008806.1:g.70124_70125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*806_*807del	ENSP00000489512.2:n.*806_*807del
ENST00000673864.2:c.*1717_*1718del	ENSP00000501045.2:n.*1717_*1718del
ENST00000674147.2:c.2352_2353del	ENSP00000500964.2:p.Pro785HisfsTer?
ENST00000242839.10:c.2973_2974del MANE Select	ENSP00000242839.5:p.Pro992HisfsTer?
ENST00000344297.9:c.2352_2353del	ENSP00000342559.5:p.Pro785HisfsTer?
ENST00000400366.6:c.2640_2641del	ENSP00000383217.3:p.Pro881HisfsTer?
ENST00000448424.7:c.2721_2722del	ENSP00000416738.3:p.Pro908HisfsTer?
ENST00000673772.1:c.2739_2740del	ENSP00000501168.1:p.Pro914HisfsTer?
ENST00000673867.1:n.1120_1121del
ENST00000674126.1:n.3336_3337del
ENST00000674147.1:c.1908_1909del	ENSP00000500964.1:p.Pro637HisfsTer?
ENST00000242839.8:c.2973_2974del	ENSP00000242839.4:p.Pro992HisfsTer?
ENST00000344297.8:c.2352_2353del	ENSP00000342559.5:p.Pro785HisfsTer?
ENST00000400366.5:c.2640_2641del	ENSP00000383217.3:p.Pro881HisfsTer?
ENST00000400370.8:c.1683_1684del	ENSP00000383221.3:p.Pro562HisfsTer?
ENST00000418097.7:c.2866-2080_2866-2079del	ENSP00000393343.2:n.2866-2080_2866-2079del
ENST00000448424.6:c.2739_2740del	ENSP00000416738.2:p.Pro914HisfsTer?
ENST00000466629.1:n.193_194del
ENST00000634296.1:c.934_935del
ENST00000634308.1:c.*74_*75del	ENSP00000489234.1:n.*74_*75del
ENST00000634620.1:n.3717_3718del
ENST00000634810.1:n.2318_2319del
ENST00000634844.1:c.2829_2830del	ENSP00000489398.1:p.Pro944HisfsTer?
ENST00000635406.1:n.319_320del
NM_000053.3:c.2973_2974del	NP_000044.2:p.Pro992HisfsTer?
NM_001005918.2:c.2352_2353del	NP_001005918.1:p.Pro785HisfsTer?
NM_001243182.1:c.2640_2641del	NP_001230111.1:p.Pro881HisfsTer?
XM_005266423.2:c.2877_2878del	XP_005266480.1:p.Pro960HisfsTer?
XM_005266424.3:c.2877_2878del	XP_005266481.1:p.Pro960HisfsTer?
XM_005266427.2:c.2739_2740del	XP_005266484.1:p.Pro914HisfsTer?
XM_005266428.1:c.2721_2722del	XP_005266485.1:p.Pro908HisfsTer?
XM_005266430.3:c.2973_2974del	XP_005266487.1:p.Pro992HisfsTer?
XM_005266431.2:c.2937_2938del	XP_005266488.1:p.Pro980HisfsTer?
XM_005266432.2:c.2487_2488del	XP_005266489.1:p.Pro830HisfsTer?
XM_006719837.2:c.2877_2878del	XP_006719900.1:p.Pro960HisfsTer?
XM_006719838.1:c.789_790del	XP_006719901.1:p.Pro264HisfsTer?
XM_006719839.1:c.789_790del	XP_006719902.1:p.Pro264HisfsTer?
XM_011535117.1:c.2877_2878del	XP_011533419.1:p.Pro960HisfsTer?
XM_011535118.1:c.2838_2839del	XP_011533420.1:p.Pro947HisfsTer?
XM_011535119.1:c.2973_2974del	XP_011533421.1:p.Pro992HisfsTer?
XM_011535120.1:c.2559_2560del	XP_011533422.1:p.Pro854HisfsTer?
XM_011535121.1:c.2730+3636_2730+3637del	XP_011533423.1:n.2730+3636_2730+3637del
XM_011535122.1:c.1641_1642del	XP_011533424.1:p.Pro548HisfsTer?
XR_941601.1:n.3192_3193del
XR_941602.1:n.3192_3193del
XR_941603.1:n.3192_3193del
XR_941604.1:n.3192_3193del
NM_001330578.1:c.2739_2740del	NP_001317507.1:p.Pro914HisfsTer?
NM_001330579.1:c.2721_2722del	NP_001317508.1:p.Pro908HisfsTer?
XM_005266424.4:c.2877_2878del	XP_005266481.1:p.Pro960HisfsTer?
XM_005266430.4:c.2973_2974del	XP_005266487.1:p.Pro992HisfsTer?
XM_005266431.4:c.2937_2938del	XP_005266488.1:p.Pro980HisfsTer?
XM_006719837.3:c.2877_2878del	XP_006719900.1:p.Pro960HisfsTer?
XM_011535117.3:c.2877_2878del	XP_011533419.1:p.Pro960HisfsTer?
XM_017020627.1:c.2877_2878del	XP_016876116.1:p.Pro960HisfsTer?
NM_000053.4:c.2973_2974del MANE Select	NP_000044.2:p.Pro992HisfsTer?
NM_001005918.3:c.2352_2353del	NP_001005918.1:p.Pro785HisfsTer?
NM_001330579.2:c.2721_2722del	NP_001317508.1:p.Pro908HisfsTer?
NM_001243182.2:c.2640_2641del	NP_001230111.1:p.Pro881HisfsTer?
NM_001330578.2:c.2739_2740del	NP_001317507.1:p.Pro914HisfsTer?