Canonical Allele Identifier: CA2683721150

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519137-GAAAATAAGAAGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519139_92519151del , CM000669.2:g.92519139_92519151del	GRCh38
NC_000007.13:g.92148453_92148465del , CM000669.1:g.92148453_92148465del	GRCh37
NC_000007.12:g.91986389_91986401del	NCBI36
NG_008341.1:g.14382_14394del
NG_008341.2:g.14382_14394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-72_274-60del MANE Select	ENSP00000248633.4:n.274-72_274-60del
ENST00000248633.8:c.274-72_274-60del	ENSP00000248633.4:n.274-72_274-60del
ENST00000428214.5:c.274-72_274-60del	ENSP00000394413.1:n.274-72_274-60del
ENST00000438045.5:c.273+2952_273+2964del	ENSP00000410438.1:n.273+2952_273+2964del
ENST00000484913.5:n.278-72_278-60del
NM_000466.2:c.274-72_274-60del	NP_000457.1:n.274-72_274-60del
NM_001282677.1:c.274-72_274-60del	NP_001269606.1:n.274-72_274-60del
NM_001282678.1:c.-386-72_-386-60del	NP_001269607.1:n.-386-72_-386-60del
XR_242246.3:n.370-72_370-60del
XR_242246.5:n.321-72_321-60del
NM_000466.3:c.274-72_274-60del MANE Select	NP_000457.1:n.274-72_274-60del
NM_001282677.2:c.274-72_274-60del	NP_001269606.1:n.274-72_274-60del
NM_001282678.2:c.-386-72_-386-60del	NP_001269607.1:n.-386-72_-386-60del