Canonical Allele Identifier: CA843847042

Gene: PEX1

Linked Data

• dbSNP Id: rs1328818691
• gnomAD v3: 7-92518164-TG-T
• gnomAD v4: 7-92518164-TG-T
• MyVariant Identifiers: chr7:g.92147479del (hg19) ; chr7:g.92518165del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518165del , CM000669.2:g.92518165del	GRCh38
NC_000007.13:g.92147479del , CM000669.1:g.92147479del	GRCh37
NC_000007.12:g.91985415del	NCBI36
NG_008341.1:g.15367del
NG_008341.2:g.15367del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.448del MANE Select	ENSP00000248633.4:p.Gln150LysfsTer11
ENST00000248633.8:c.448del	ENSP00000248633.4:p.Gln150LysfsTer11
ENST00000428214.5:c.448del	ENSP00000394413.1:p.Gln150LysfsTer11
ENST00000438045.5:c.273+3937del	ENSP00000410438.1:n.273+3937del
ENST00000484913.5:n.487del
NM_000466.2:c.448del	NP_000457.1:p.Gln150LysfsTer11
NM_001282677.1:c.448del	NP_001269606.1:p.Gln150LysfsTer11
NM_001282678.1:c.-177del	NP_001269607.1:n.-177del
XR_242246.3:n.544del
XR_242246.5:n.495del
NM_000466.3:c.448del MANE Select	NP_000457.1:p.Gln150LysfsTer11
NM_001282677.2:c.448del	NP_001269606.1:p.Gln150LysfsTer11
NM_001282678.2:c.-177del	NP_001269607.1:n.-177del