Canonical Allele Identifier: CA638502327

Gene: PEX26

Linked Data

• dbSNP Id: rs1569185489
• gnomAD v2: 22-18560904-G-GATGCAAGA
• gnomAD v4: 22-18078138-G-GATGCAAGA
• MyVariant Identifiers: chr22:g.18560904_18560905insATGCAAGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078141_18078148dup , CM000684.2:g.18078141_18078148dup	GRCh38
NC_000022.10:g.18560907_18560914dup , CM000684.1:g.18560907_18560914dup	GRCh37
NC_000022.9:g.16940907_16940914dup	NCBI36
NG_008339.1:g.5222_5229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.-236_-229dup MANE Select	ENSP00000382648.4:n.-236_-229dup
ENST00000474897.6:c.-82+94_-82+101dup	ENSP00000434235.2:n.-82+94_-82+101dup
ENST00000329627.11:c.-82+94_-82+101dup	ENSP00000331106.5:n.-82+94_-82+101dup
ENST00000399744.7:c.-236_-229dup	ENSP00000382648.3:n.-236_-229dup
ENST00000474897.5:c.-236_-229dup	ENSP00000434235.1:n.-236_-229dup
ENST00000610387.4:c.-82+94_-82+101dup	ENSP00000482091.1:n.-82+94_-82+101dup
NM_001127649.2:c.-236_-229dup	NP_001121121.1:n.-236_-229dup
NM_001199319.1:c.-82+94_-82+101dup	NP_001186248.1:n.-82+94_-82+101dup
NM_017929.5:c.-82+94_-82+101dup	NP_060399.1:n.-82+94_-82+101dup
NM_001127649.3:c.-236_-229dup MANE Select	NP_001121121.1:n.-236_-229dup
NM_001199319.2:c.-82+94_-82+101dup	NP_001186248.1:n.-82+94_-82+101dup
NM_017929.6:c.-82+94_-82+101dup	NP_060399.1:n.-82+94_-82+101dup