Canonical Allele Identifier: CA2575755568

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156867_64156868del , CM000677.2:g.64156867_64156868del GRCh38
NC_000015.9:g.64449066_64449067del , CM000677.1:g.64449066_64449067del GRCh37
NC_000015.8:g.62236119_62236120del NCBI36
NG_012979.1:g.11289_11290del , LRG_10:g.11289_11290del
NG_033071.1:g.10151_10152del

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.386_387del (PPIB) MANE Select ENSP00000300026.4:p.Lys129ThrfsTer?
ENST00000325881.9:c.*2359_*2360del (SNX22) MANE Select ENSP00000323435.4:n.*2359_*2360del
ENST00000561048.2:n.3613_3614del (PPIB)
ENST00000680158.1:c.*59_*60del (PPIB) ENSP00000504873.1:n.*59_*60del
ENST00000680343.1:n.340_341del (PPIB)
ENST00000681397.1:c.386_387del (PPIB) ENSP00000506584.1:p.Lys129ThrfsTer?
ENST00000681658.1:c.281_282del (PPIB) ENSP00000505431.1:p.Lys94ThrfsTer?
ENST00000300026.3:c.386_387del (PPIB) ENSP00000300026.3:p.Lys129ThrfsTer?
ENST00000325881.8:c.*2359_*2360del (SNX22) ENSP00000323435.4:n.*2359_*2360del
ENST00000557789.5:n.3099_3100del (SNX22)
ENST00000558492.1:n.292_293del (PPIB)
ENST00000560997.1:n.2754_2755del (SNX22)
NM_000942.4:c.386_387del , LRG_10t1:c.386_387del (PPIB) NP_000933.1:p.Lys129ThrfsTer?
NM_024798.2:c.*2359_*2360del (SNX22) NP_079074.2:n.*2359_*2360del
NR_073534.1:n.3047_3048del (SNX22)
XM_017022581.1:c.*2359_*2360del (SNX22) XP_016878070.1:n.*2359_*2360del
NM_024798.3:c.*2359_*2360del (SNX22) MANE Select NP_079074.2:n.*2359_*2360del
NM_000942.5:c.386_387del (PPIB) MANE Select NP_000933.1:p.Lys129ThrfsTer?
NR_073534.2:n.3033_3034del (SNX22)