Canonical Allele Identifier: CA618956281

Gene: PPIB SNX22

Linked Data

• ClinVar Variation Id: 1344893
• ClinVar RCV Id: RCV001849895 ; RCV003120724
• dbSNP Id: rs1211592084
• gnomAD v2: 15-64449016-CTT-C
• gnomAD v3: 15-64156817-CTT-C
• gnomAD v4: 15-64156817-CTT-C
• MyVariant Identifiers: chr15:g.64449017_64449018del (hg19) ; chr15:g.64156818_64156819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64156819_64156820del , CM000677.2:g.64156819_64156820del	GRCh38
NC_000015.9:g.64449018_64449019del , CM000677.1:g.64449018_64449019del	GRCh37
NC_000015.8:g.62236071_62236072del	NCBI36
NG_012979.1:g.11337_11338del , LRG_10:g.11337_11338del
NG_033071.1:g.10103_10104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300026.4:c.434_435del (PPIB) MANE Select	ENSP00000300026.4:p.Lys145ArgfsTer?
ENST00000325881.9:c.*2311_*2312del (SNX22) MANE Select	ENSP00000323435.4:n.*2311_*2312del
ENST00000561048.2:n.3661_3662del (PPIB)
ENST00000680158.1:c.*107_*108del (PPIB)	ENSP00000504873.1:n.*107_*108del
ENST00000680343.1:n.388_389del (PPIB)
ENST00000681397.1:c.434_435del (PPIB)	ENSP00000506584.1:p.Lys145ArgfsTer?
ENST00000681658.1:c.329_330del (PPIB)	ENSP00000505431.1:p.Lys110ArgfsTer?
ENST00000300026.3:c.434_435del (PPIB)	ENSP00000300026.3:p.Lys145ArgfsTer?
ENST00000325881.8:c.*2311_*2312del (SNX22)	ENSP00000323435.4:n.*2311_*2312del
ENST00000557789.5:n.3051_3052del (SNX22)
ENST00000558492.1:n.340_341del (PPIB)
ENST00000560997.1:n.2706_2707del (SNX22)
NM_000942.4:c.434_435del , LRG_10t1:c.434_435del (PPIB)	NP_000933.1:p.Lys145ArgfsTer?
NM_024798.2:c.*2311_*2312del (SNX22)	NP_079074.2:n.*2311_*2312del
NR_073534.1:n.2999_3000del (SNX22)
XM_017022581.1:c.*2311_*2312del (SNX22)	XP_016878070.1:n.*2311_*2312del
NM_024798.3:c.*2311_*2312del (SNX22) MANE Select	NP_079074.2:n.*2311_*2312del
NM_000942.5:c.434_435del (PPIB) MANE Select	NP_000933.1:p.Lys145ArgfsTer?
NR_073534.2:n.2985_2986del (SNX22)