Canonical Allele Identifier: CA2776947561

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519126_92519135del , CM000669.2:g.92519126_92519135del	GRCh38
NC_000007.13:g.92148440_92148449del , CM000669.1:g.92148440_92148449del	GRCh37
NC_000007.12:g.91986376_91986385del	NCBI36
NG_008341.1:g.14398_14407del
NG_008341.2:g.14398_14407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-56_274-47del MANE Select	ENSP00000248633.4:n.274-56_274-47del
ENST00000248633.8:c.274-56_274-47del	ENSP00000248633.4:n.274-56_274-47del
ENST00000428214.5:c.274-56_274-47del	ENSP00000394413.1:n.274-56_274-47del
ENST00000438045.5:c.273+2968_273+2977del	ENSP00000410438.1:n.273+2968_273+2977del
ENST00000484913.5:n.278-56_278-47del
NM_000466.2:c.274-56_274-47del	NP_000457.1:n.274-56_274-47del
NM_001282677.1:c.274-56_274-47del	NP_001269606.1:n.274-56_274-47del
NM_001282678.1:c.-386-56_-386-47del	NP_001269607.1:n.-386-56_-386-47del
XR_242246.3:n.370-56_370-47del
XR_242246.5:n.321-56_321-47del
NM_000466.3:c.274-56_274-47del MANE Select	NP_000457.1:n.274-56_274-47del
NM_001282677.2:c.274-56_274-47del	NP_001269606.1:n.274-56_274-47del
NM_001282678.2:c.-386-56_-386-47del	NP_001269607.1:n.-386-56_-386-47del