Canonical Allele Identifier: CA1725948810

Gene: PEX1

Linked Data

• dbSNP Id: rs1792906931

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518446_92518448del , CM000669.2:g.92518446_92518448del	GRCh38
NC_000007.13:g.92147760_92147762del , CM000669.1:g.92147760_92147762del	GRCh37
NC_000007.12:g.91985696_91985698del	NCBI36
NG_008341.1:g.15088_15090del
NG_008341.2:g.15088_15090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-189_358-187del MANE Select	ENSP00000248633.4:n.358-189_358-187del
ENST00000248633.8:c.358-189_358-187del	ENSP00000248633.4:n.358-189_358-187del
ENST00000428214.5:c.358-189_358-187del	ENSP00000394413.1:n.358-189_358-187del
ENST00000438045.5:c.273+3658_273+3660del	ENSP00000410438.1:n.273+3658_273+3660del
ENST00000484913.5:n.397-189_397-187del
NM_000466.2:c.358-189_358-187del	NP_000457.1:n.358-189_358-187del
NM_001282677.1:c.358-189_358-187del	NP_001269606.1:n.358-189_358-187del
NM_001282678.1:c.-267-189_-267-187del	NP_001269607.1:n.-267-189_-267-187del
XR_242246.3:n.454-189_454-187del
XR_242246.5:n.405-189_405-187del
NM_000466.3:c.358-189_358-187del MANE Select	NP_000457.1:n.358-189_358-187del
NM_001282677.2:c.358-189_358-187del	NP_001269606.1:n.358-189_358-187del
NM_001282678.2:c.-267-189_-267-187del	NP_001269607.1:n.-267-189_-267-187del