Canonical Allele Identifier: CA2683721140

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519117-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519120_92519121del , CM000669.2:g.92519120_92519121del	GRCh38
NC_000007.13:g.92148434_92148435del , CM000669.1:g.92148434_92148435del	GRCh37
NC_000007.12:g.91986370_91986371del	NCBI36
NG_008341.1:g.14413_14414del
NG_008341.2:g.14413_14414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-41_274-40del MANE Select	ENSP00000248633.4:n.274-41_274-40del
ENST00000248633.8:c.274-41_274-40del	ENSP00000248633.4:n.274-41_274-40del
ENST00000428214.5:c.274-41_274-40del	ENSP00000394413.1:n.274-41_274-40del
ENST00000438045.5:c.273+2983_273+2984del	ENSP00000410438.1:n.273+2983_273+2984del
ENST00000484913.5:n.278-41_278-40del
NM_000466.2:c.274-41_274-40del	NP_000457.1:n.274-41_274-40del
NM_001282677.1:c.274-41_274-40del	NP_001269606.1:n.274-41_274-40del
NM_001282678.1:c.-386-41_-386-40del	NP_001269607.1:n.-386-41_-386-40del
XR_242246.3:n.370-41_370-40del
XR_242246.5:n.321-41_321-40del
NM_000466.3:c.274-41_274-40del MANE Select	NP_000457.1:n.274-41_274-40del
NM_001282677.2:c.274-41_274-40del	NP_001269606.1:n.274-41_274-40del
NM_001282678.2:c.-386-41_-386-40del	NP_001269607.1:n.-386-41_-386-40del