Canonical Allele Identifier: CA751300122

Gene: PEX26

Linked Data

• dbSNP Id: rs1237465465
• gnomAD v3: 22-18079775-TGCTGAGTTGGGA-T
• gnomAD v4: 22-18079775-TGCTGAGTTGGGA-T
• MyVariant Identifiers: chr22:g.18562542_18562553del (hg19) ; chr22:g.18079776_18079787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18079780_18079791del , CM000684.2:g.18079780_18079791del	GRCh38
NC_000022.10:g.18562546_18562557del , CM000684.1:g.18562546_18562557del	GRCh37
NC_000022.9:g.16942546_16942557del	NCBI36
NG_008339.1:g.6861_6872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.231-94_231-83del MANE Select	ENSP00000382648.4:n.231-94_231-83del
ENST00000474897.6:c.231-94_231-83del	ENSP00000434235.2:n.231-94_231-83del
ENST00000329627.11:c.231-94_231-83del	ENSP00000331106.5:n.231-94_231-83del
ENST00000399744.7:c.231-94_231-83del	ENSP00000382648.3:n.231-94_231-83del
ENST00000428061.2:c.231-94_231-83del	ENSP00000412441.2:n.231-94_231-83del
ENST00000474897.5:c.231-94_231-83del	ENSP00000434235.1:n.231-94_231-83del
ENST00000610387.4:c.231-94_231-83del	ENSP00000482091.1:n.231-94_231-83del
NM_001127649.2:c.231-94_231-83del	NP_001121121.1:n.231-94_231-83del
NM_001199319.1:c.231-94_231-83del	NP_001186248.1:n.231-94_231-83del
NM_017929.5:c.231-94_231-83del	NP_060399.1:n.231-94_231-83del
NM_001127649.3:c.231-94_231-83del MANE Select	NP_001121121.1:n.231-94_231-83del
NM_001199319.2:c.231-94_231-83del	NP_001186248.1:n.231-94_231-83del
NM_017929.6:c.231-94_231-83del	NP_060399.1:n.231-94_231-83del