Canonical Allele Identifier: CA2683721046

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518979-ATTTGGTTTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518983_92518992del , CM000669.2:g.92518983_92518992del	GRCh38
NC_000007.13:g.92148297_92148306del , CM000669.1:g.92148297_92148306del	GRCh37
NC_000007.12:g.91986233_91986242del	NCBI36
NG_008341.1:g.14543_14552del
NG_008341.2:g.14543_14552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+6_357+15del MANE Select	ENSP00000248633.4:n.357+6_357+15del
ENST00000248633.8:c.357+6_357+15del	ENSP00000248633.4:n.357+6_357+15del
ENST00000428214.5:c.357+6_357+15del	ENSP00000394413.1:n.357+6_357+15del
ENST00000438045.5:c.273+3113_273+3122del	ENSP00000410438.1:n.273+3113_273+3122del
ENST00000484913.5:n.367_376del
NM_000466.2:c.357+6_357+15del	NP_000457.1:n.357+6_357+15del
NM_001282677.1:c.357+6_357+15del	NP_001269606.1:n.357+6_357+15del
NM_001282678.1:c.-297_-288del	NP_001269607.1:n.-297_-288del
XR_242246.3:n.453+6_453+15del
XR_242246.5:n.404+6_404+15del
NM_000466.3:c.357+6_357+15del MANE Select	NP_000457.1:n.357+6_357+15del
NM_001282677.2:c.357+6_357+15del	NP_001269606.1:n.357+6_357+15del
NM_001282678.2:c.-297_-288del	NP_001269607.1:n.-297_-288del