Canonical Allele Identifier: CA3260267134
Community Standard Title: NM_000053.4(ATP7B):c.2971_2973delinsGCA (p.Thr991Ala)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946371_51946373delinsTGC , CM000675.2:g.51946371_51946373delinsTGC GRCh38
NC_000013.10:g.52520507_52520509delinsTGC , CM000675.1:g.52520507_52520509delinsTGC GRCh37
NC_000013.9:g.51418508_51418510delinsTGC NCBI36
NG_008806.1:g.70122_70124delinsGCA

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2971_2973delinsGCA MANE Select NP_000044.2:p.Thr991Ala
ENST00000242839.10:c.2971_2973delinsGCA MANE Select ENSP00000242839.5:p.Thr991Ala
NM_000053.3:c.2971_2973delinsGCA NP_000044.2:p.Thr991Ala
NM_001005918.2:c.2350_2352delinsGCA NP_001005918.1:p.Thr784Ala
NM_001005918.3:c.2350_2352delinsGCA NP_001005918.1:p.Thr784Ala
NM_001243182.1:c.2638_2640delinsGCA NP_001230111.1:p.Thr880Ala
NM_001243182.2:c.2638_2640delinsGCA NP_001230111.1:p.Thr880Ala
NM_001330578.1:c.2737_2739delinsGCA NP_001317507.1:p.Thr913Ala
NM_001330578.2:c.2737_2739delinsGCA NP_001317507.1:p.Thr913Ala
NM_001330579.1:c.2719_2721delinsGCA NP_001317508.1:p.Thr907Ala
NM_001330579.2:c.2719_2721delinsGCA NP_001317508.1:p.Thr907Ala
ENST00000242839.8:c.2971_2973delinsGCA ENSP00000242839.4:p.Thr991Ala
ENST00000344297.8:c.2350_2352delinsGCA ENSP00000342559.5:p.Thr784Ala
ENST00000344297.9:c.2350_2352delinsGCA ENSP00000342559.5:p.Thr784Ala
ENST00000400366.5:c.2638_2640delinsGCA ENSP00000383217.3:p.Thr880Ala
ENST00000400366.6:c.2638_2640delinsGCA ENSP00000383217.3:p.Thr880Ala
ENST00000400370.8:c.1681_1683delinsGCA ENSP00000383221.3:p.Thr561Ala
ENST00000418097.7:c.2866-2082_2866-2080delinsGCA ENSP00000393343.2:n.2866-2082_2866-2080delinsGCA
ENST00000448424.6:c.2737_2739delinsGCA ENSP00000416738.2:p.Thr913Ala
ENST00000448424.7:c.2719_2721delinsGCA ENSP00000416738.3:p.Thr907Ala
ENST00000466629.1:n.191_193delinsGCA
ENST00000634296.1:c.932_934delinsGCA
ENST00000634296.2:c.*804_*806delinsGCA ENSP00000489512.2:n.*804_*806delinsGCA
ENST00000634308.1:c.*72_*74delinsGCA ENSP00000489234.1:n.*72_*74delinsGCA
ENST00000634620.1:n.3715_3717delinsGCA
ENST00000634810.1:n.2316_2318delinsGCA
ENST00000634844.1:c.2827_2829delinsGCA ENSP00000489398.1:p.Thr943Ala
ENST00000635406.1:n.317_319delinsGCA
ENST00000673772.1:c.2737_2739delinsGCA ENSP00000501168.1:p.Thr913Ala
ENST00000673864.2:c.*1715_*1717delinsGCA ENSP00000501045.2:n.*1715_*1717delinsGCA
ENST00000673867.1:n.1118_1120delinsGCA
ENST00000674126.1:n.3334_3336delinsGCA
ENST00000674147.1:c.1906_1908delinsGCA ENSP00000500964.1:p.Thr636Ala
ENST00000674147.2:c.2350_2352delinsGCA ENSP00000500964.2:p.Thr784Ala
XM_005266423.2:c.2875_2877delinsGCA XP_005266480.1:p.Thr959Ala
XM_005266424.3:c.2875_2877delinsGCA XP_005266481.1:p.Thr959Ala
XM_005266424.4:c.2875_2877delinsGCA XP_005266481.1:p.Thr959Ala
XM_005266427.2:c.2737_2739delinsGCA XP_005266484.1:p.Thr913Ala
XM_005266428.1:c.2719_2721delinsGCA XP_005266485.1:p.Thr907Ala
XM_005266430.3:c.2971_2973delinsGCA XP_005266487.1:p.Thr991Ala
XM_005266430.4:c.2971_2973delinsGCA XP_005266487.1:p.Thr991Ala
XM_005266431.2:c.2935_2937delinsGCA XP_005266488.1:p.Thr979Ala
XM_005266431.4:c.2935_2937delinsGCA XP_005266488.1:p.Thr979Ala
XM_005266432.2:c.2485_2487delinsGCA XP_005266489.1:p.Thr829Ala
XM_006719837.2:c.2875_2877delinsGCA XP_006719900.1:p.Thr959Ala
XM_006719837.3:c.2875_2877delinsGCA XP_006719900.1:p.Thr959Ala
XM_006719838.1:c.787_789delinsGCA XP_006719901.1:p.Thr263Ala
XM_006719839.1:c.787_789delinsGCA XP_006719902.1:p.Thr263Ala
XM_011535117.1:c.2875_2877delinsGCA XP_011533419.1:p.Thr959Ala
XM_011535117.3:c.2875_2877delinsGCA XP_011533419.1:p.Thr959Ala
XM_011535118.1:c.2836_2838delinsGCA XP_011533420.1:p.Thr946Ala
XM_011535119.1:c.2971_2973delinsGCA XP_011533421.1:p.Thr991Ala
XM_011535120.1:c.2557_2559delinsGCA XP_011533422.1:p.Thr853Ala
XM_011535121.1:c.2730+3634_2730+3636delinsGCA XP_011533423.1:n.2730+3634_2730+3636delinsGCA
XM_011535122.1:c.1639_1641delinsGCA XP_011533424.1:p.Thr547Ala
XM_017020627.1:c.2875_2877delinsGCA XP_016876116.1:p.Thr959Ala
XR_941601.1:n.3190_3192delinsGCA
XR_941602.1:n.3190_3192delinsGCA
XR_941603.1:n.3190_3192delinsGCA
XR_941604.1:n.3190_3192delinsGCA