Canonical Allele Identifier: CA1104477061

Gene: PEX1

Linked Data

• dbSNP Id: rs1792890827
• gnomAD v3: 7-92518171-CAACCCAAA-C
• gnomAD v4: 7-92518171-CAACCCAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518172_92518179del , CM000669.2:g.92518172_92518179del	GRCh38
NC_000007.13:g.92147486_92147493del , CM000669.1:g.92147486_92147493del	GRCh37
NC_000007.12:g.91985422_91985429del	NCBI36
NG_008341.1:g.15353_15360del
NG_008341.2:g.15353_15360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.434_441del MANE Select	ENSP00000248633.4:p.Val145GlyfsTer25
ENST00000248633.8:c.434_441del	ENSP00000248633.4:p.Val145GlyfsTer25
ENST00000428214.5:c.434_441del	ENSP00000394413.1:p.Val145GlyfsTer25
ENST00000438045.5:c.273+3923_273+3930del	ENSP00000410438.1:n.273+3923_273+3930del
ENST00000484913.5:n.473_480del
NM_000466.2:c.434_441del	NP_000457.1:p.Val145GlyfsTer25
NM_001282677.1:c.434_441del	NP_001269606.1:p.Val145GlyfsTer25
NM_001282678.1:c.-191_-184del	NP_001269607.1:n.-191_-184del
XR_242246.3:n.530_537del
XR_242246.5:n.481_488del
NM_000466.3:c.434_441del MANE Select	NP_000457.1:p.Val145GlyfsTer25
NM_001282677.2:c.434_441del	NP_001269606.1:p.Val145GlyfsTer25
NM_001282678.2:c.-191_-184del	NP_001269607.1:n.-191_-184del