Canonical Allele Identifier: CA10093254

Gene: PEX26

Linked Data

• dbSNP Id: rs755789164
• ExAC: 22:18561420 TG / T
• gnomAD v2: 22-18561420-TG-T
• MyVariant Identifiers: chr22:g.18561421del (hg19) ; chr22:g.18078655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078658del , CM000684.2:g.18078658del	GRCh38
NC_000022.10:g.18561424del , CM000684.1:g.18561424del	GRCh37
NC_000022.9:g.16941424del	NCBI36
NG_008339.1:g.5739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.230+52del MANE Select	ENSP00000382648.4:n.230+52del
ENST00000474897.6:c.230+52del	ENSP00000434235.2:n.230+52del
ENST00000329627.11:c.230+52del	ENSP00000331106.5:n.230+52del
ENST00000399744.7:c.230+52del	ENSP00000382648.3:n.230+52del
ENST00000428061.2:c.230+52del	ENSP00000412441.2:n.230+52del
ENST00000474897.5:c.230+52del	ENSP00000434235.1:n.230+52del
ENST00000610387.4:c.230+52del	ENSP00000482091.1:n.230+52del
NM_001127649.2:c.230+52del	NP_001121121.1:n.230+52del
NM_001199319.1:c.230+52del	NP_001186248.1:n.230+52del
NM_017929.5:c.230+52del	NP_060399.1:n.230+52del
NM_001127649.3:c.230+52del MANE Select	NP_001121121.1:n.230+52del
NM_001199319.2:c.230+52del	NP_001186248.1:n.230+52del
NM_017929.6:c.230+52del	NP_060399.1:n.230+52del