Canonical Allele Identifier: CA10588990

Linked Data

ClinVar Variation Id: 266118
ClinVar RCV Id: RCV000256409
dbSNP Id: rs886039912

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156852_64156854dup , CM000677.2:g.64156852_64156854dup GRCh38
NC_000015.9:g.64449051_64449053dup , CM000677.1:g.64449051_64449053dup GRCh37
NC_000015.8:g.62236104_62236106dup NCBI36
NG_012979.1:g.11302_11304dup , LRG_10:g.11302_11304dup
NG_033071.1:g.10136_10138dup

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.399_401dup (PPIB) MANE Select ENSP00000300026.4:p.Gly134_Pro135insGly
ENST00000325881.9:c.*2344_*2346dup (SNX22) MANE Select ENSP00000323435.4:n.*2344_*2346dup
ENST00000561048.2:n.3626_3628dup (PPIB)
ENST00000680158.1:c.*72_*74dup (PPIB) ENSP00000504873.1:n.*72_*74dup
ENST00000680343.1:n.353_355dup (PPIB)
ENST00000681397.1:c.399_401dup (PPIB) ENSP00000506584.1:p.Gly134_Pro135insGly
ENST00000681658.1:c.294_296dup (PPIB) ENSP00000505431.1:p.Gly99_Pro100insGly
ENST00000300026.3:c.399_401dup (PPIB) ENSP00000300026.3:p.Gly134_Pro135insGly
ENST00000325881.8:c.*2344_*2346dup (SNX22) ENSP00000323435.4:n.*2344_*2346dup
ENST00000557789.5:n.3084_3086dup (SNX22)
ENST00000558492.1:n.305_307dup (PPIB)
ENST00000560997.1:n.2739_2741dup (SNX22)
NM_000942.4:c.399_401dup , LRG_10t1:c.399_401dup (PPIB) NP_000933.1:p.Gly134_Pro135insGly
NM_024798.2:c.*2344_*2346dup (SNX22) NP_079074.2:n.*2344_*2346dup
NR_073534.1:n.3032_3034dup (SNX22)
XM_017022581.1:c.*2344_*2346dup (SNX22) XP_016878070.1:n.*2344_*2346dup
NM_024798.3:c.*2344_*2346dup (SNX22) MANE Select NP_079074.2:n.*2344_*2346dup
NM_000942.5:c.399_401dup (PPIB) MANE Select NP_000933.1:p.Gly134_Pro135insGly
NR_073534.2:n.3018_3020dup (SNX22)