Canonical Allele Identifier: CA1089349657

Linked Data

dbSNP Id: rs1764743916

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57189376_57189379dup , CM000668.2:g.57189376_57189379dup GRCh38
NC_000006.11:g.57054174_57054177dup , CM000668.1:g.57054174_57054177dup GRCh37
NC_000006.10:g.57162133_57162136dup NCBI36
NG_012170.1:g.37902_37905dup

Transcript Alleles

HGVS Amino-acid change
ENST00000468148.6:c.*1082_*1085dup (RAB23) MANE Select ENSP00000417610.1:n.*1082_*1085dup
ENST00000317483.4:c.*1082_*1085dup (RAB23) ENSP00000320413.3:n.*1082_*1085dup
ENST00000370693.5:c.*5186_*5189dup (BAG2) MANE Select ENSP00000359727.4:n.*5186_*5189dup
ENST00000468148.5:c.*1082_*1085dup (RAB23) ENSP00000417610.1:n.*1082_*1085dup
NM_001278666.1:c.*1082_*1085dup (RAB23) NP_001265595.1:n.*1082_*1085dup
NM_001278667.1:c.*1082_*1085dup (RAB23) NP_001265596.1:n.*1082_*1085dup
NM_001278668.1:c.*1082_*1085dup (RAB23) NP_001265597.1:n.*1082_*1085dup
NM_016277.4:c.*1082_*1085dup (RAB23) NP_057361.3:n.*1082_*1085dup
NM_183227.2:c.*1082_*1085dup (RAB23) NP_899050.1:n.*1082_*1085dup
NR_103822.1:n.1655_1658dup (RAB23)
NM_004282.4:c.*5186_*5189dup (BAG2) MANE Select NP_004273.1:n.*5186_*5189dup
NM_016277.5:c.*1082_*1085dup (RAB23) MANE Select NP_057361.3:n.*1082_*1085dup
NM_001278666.2:c.*1082_*1085dup (RAB23) NP_001265595.1:n.*1082_*1085dup
NM_001278667.2:c.*1082_*1085dup (RAB23) NP_001265596.1:n.*1082_*1085dup
NM_001278668.2:c.*1082_*1085dup (RAB23) NP_001265597.1:n.*1082_*1085dup
NM_183227.3:c.*1082_*1085dup (RAB23) NP_899050.1:n.*1082_*1085dup
NR_103822.2:n.1648_1651dup (RAB23)