Canonical Allele Identifier: CA2683721163

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519158-TACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519160_92519162del , CM000669.2:g.92519160_92519162del	GRCh38
NC_000007.13:g.92148474_92148476del , CM000669.1:g.92148474_92148476del	GRCh37
NC_000007.12:g.91986410_91986412del	NCBI36
NG_008341.1:g.14371_14373del
NG_008341.2:g.14371_14373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-83_274-81del MANE Select	ENSP00000248633.4:n.274-83_274-81del
ENST00000248633.8:c.274-83_274-81del	ENSP00000248633.4:n.274-83_274-81del
ENST00000428214.5:c.274-83_274-81del	ENSP00000394413.1:n.274-83_274-81del
ENST00000438045.5:c.273+2941_273+2943del	ENSP00000410438.1:n.273+2941_273+2943del
ENST00000484913.5:n.278-83_278-81del
NM_000466.2:c.274-83_274-81del	NP_000457.1:n.274-83_274-81del
NM_001282677.1:c.274-83_274-81del	NP_001269606.1:n.274-83_274-81del
NM_001282678.1:c.-386-83_-386-81del	NP_001269607.1:n.-386-83_-386-81del
XR_242246.3:n.370-83_370-81del
XR_242246.5:n.321-83_321-81del
NM_000466.3:c.274-83_274-81del MANE Select	NP_000457.1:n.274-83_274-81del
NM_001282677.2:c.274-83_274-81del	NP_001269606.1:n.274-83_274-81del
NM_001282678.2:c.-386-83_-386-81del	NP_001269607.1:n.-386-83_-386-81del