Canonical Allele Identifier: CA2554795824

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946315_51946320del , CM000675.2:g.51946315_51946320del	GRCh38
NC_000013.10:g.52520451_52520456del , CM000675.1:g.52520451_52520456del	GRCh37
NC_000013.9:g.51418452_51418457del	NCBI36
NG_008806.1:g.70175_70180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*857_*862del	ENSP00000489512.2:n.*857_*862del
ENST00000673864.2:c.*1768_*1773del	ENSP00000501045.2:n.*1768_*1773del
ENST00000674147.2:c.2403_2408del	ENSP00000500964.2:p.Ile802_Lys803del
ENST00000242839.10:c.3024_3029del MANE Select	ENSP00000242839.5:p.Ile1009_Lys1010del
ENST00000344297.9:c.2403_2408del	ENSP00000342559.5:p.Ile802_Lys803del
ENST00000400366.6:c.2691_2696del	ENSP00000383217.3:p.Ile898_Lys899del
ENST00000448424.7:c.2772_2777del	ENSP00000416738.3:p.Ile925_Lys926del
ENST00000673772.1:c.2790_2795del	ENSP00000501168.1:p.Ile931_Lys932del
ENST00000673867.1:n.1171_1176del
ENST00000674126.1:n.3387_3392del
ENST00000674147.1:c.1959_1964del	ENSP00000500964.1:p.Ile654_Lys655del
ENST00000242839.8:c.3024_3029del	ENSP00000242839.4:p.Ile1009_Lys1010del
ENST00000344297.8:c.2403_2408del	ENSP00000342559.5:p.Ile802_Lys803del
ENST00000400366.5:c.2691_2696del	ENSP00000383217.3:p.Ile898_Lys899del
ENST00000400370.8:c.1734_1739del	ENSP00000383221.3:p.Ile579_Lys580del
ENST00000418097.7:c.2866-2029_2866-2024del	ENSP00000393343.2:n.2866-2029_2866-2024del
ENST00000448424.6:c.2790_2795del	ENSP00000416738.2:p.Ile931_Lys932del
ENST00000466629.1:n.244_249del
ENST00000634296.1:c.985_990del
ENST00000634308.1:c.*125_*130del	ENSP00000489234.1:n.*125_*130del
ENST00000634620.1:n.3768_3773del
ENST00000634810.1:n.2369_2374del
ENST00000634844.1:c.2880_2885del	ENSP00000489398.1:p.Ile961_Lys962del
ENST00000635406.1:n.370_375del
NM_000053.3:c.3024_3029del	NP_000044.2:p.Ile1009_Lys1010del
NM_001005918.2:c.2403_2408del	NP_001005918.1:p.Ile802_Lys803del
NM_001243182.1:c.2691_2696del	NP_001230111.1:p.Ile898_Lys899del
XM_005266423.2:c.2928_2933del	XP_005266480.1:p.Ile977_Lys978del
XM_005266424.3:c.2928_2933del	XP_005266481.1:p.Ile977_Lys978del
XM_005266427.2:c.2790_2795del	XP_005266484.1:p.Ile931_Lys932del
XM_005266428.1:c.2772_2777del	XP_005266485.1:p.Ile925_Lys926del
XM_005266430.3:c.3024_3029del	XP_005266487.1:p.Ile1009_Lys1010del
XM_005266431.2:c.2988_2993del	XP_005266488.1:p.Ile997_Lys998del
XM_005266432.2:c.2538_2543del	XP_005266489.1:p.Ile847_Lys848del
XM_006719837.2:c.2928_2933del	XP_006719900.1:p.Ile977_Lys978del
XM_006719838.1:c.840_845del	XP_006719901.1:p.Ile281_Lys282del
XM_006719839.1:c.840_845del	XP_006719902.1:p.Ile281_Lys282del
XM_011535117.1:c.2928_2933del	XP_011533419.1:p.Ile977_Lys978del
XM_011535118.1:c.2889_2894del	XP_011533420.1:p.Ile964_Lys965del
XM_011535119.1:c.3024_3029del	XP_011533421.1:p.Ile1009_Lys1010del
XM_011535120.1:c.2610_2615del	XP_011533422.1:p.Ile871_Lys872del
XM_011535121.1:c.2730+3687_2730+3692del	XP_011533423.1:n.2730+3687_2730+3692del
XM_011535122.1:c.1692_1697del	XP_011533424.1:p.Ile565_Lys566del
XR_941601.1:n.3243_3248del
XR_941602.1:n.3243_3248del
XR_941603.1:n.3243_3248del
XR_941604.1:n.3243_3248del
NM_001330578.1:c.2790_2795del	NP_001317507.1:p.Ile931_Lys932del
NM_001330579.1:c.2772_2777del	NP_001317508.1:p.Ile925_Lys926del
XM_005266424.4:c.2928_2933del	XP_005266481.1:p.Ile977_Lys978del
XM_005266430.4:c.3024_3029del	XP_005266487.1:p.Ile1009_Lys1010del
XM_005266431.4:c.2988_2993del	XP_005266488.1:p.Ile997_Lys998del
XM_006719837.3:c.2928_2933del	XP_006719900.1:p.Ile977_Lys978del
XM_011535117.3:c.2928_2933del	XP_011533419.1:p.Ile977_Lys978del
XM_017020627.1:c.2928_2933del	XP_016876116.1:p.Ile977_Lys978del
NM_000053.4:c.3024_3029del MANE Select	NP_000044.2:p.Ile1009_Lys1010del
NM_001005918.3:c.2403_2408del	NP_001005918.1:p.Ile802_Lys803del
NM_001330579.2:c.2772_2777del	NP_001317508.1:p.Ile925_Lys926del
NM_001243182.2:c.2691_2696del	NP_001230111.1:p.Ile898_Lys899del
NM_001330578.2:c.2790_2795del	NP_001317507.1:p.Ile931_Lys932del