Canonical Allele Identifier: CA1725936865

Gene: PEX1

Linked Data

• dbSNP Id: rs138118520

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502987_92502988del , CM000669.2:g.92502987_92502988del	GRCh38
NC_000007.13:g.92132301_92132302del , CM000669.1:g.92132301_92132302del	GRCh37
NC_000007.12:g.91970237_91970238del	NCBI36
NG_008341.1:g.30547_30548del
NG_008341.2:g.30547_30548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+56_2226+57del MANE Select	ENSP00000248633.4:n.2226+56_2226+57del
ENST00000248633.8:c.2226+56_2226+57del	ENSP00000248633.4:n.2226+56_2226+57del
ENST00000428214.5:c.2055+56_2055+57del	ENSP00000394413.1:n.2055+56_2055+57del
ENST00000438045.5:c.1260+56_1260+57del	ENSP00000410438.1:n.1260+56_1260+57del
ENST00000484913.5:n.2265+56_2265+57del
ENST00000496092.1:n.24+56_24+57del
ENST00000496420.5:n.1902+56_1902+57del
NM_000466.2:c.2226+56_2226+57del	NP_000457.1:n.2226+56_2226+57del
NM_001282677.1:c.2055+56_2055+57del	NP_001269606.1:n.2055+56_2055+57del
NM_001282678.1:c.1602+56_1602+57del	NP_001269607.1:n.1602+56_1602+57del
XM_005250433.3:c.477+56_477+57del	XP_005250490.1:n.477+56_477+57del
XR_242246.3:n.2322+56_2322+57del
XM_017012319.2:c.477+56_477+57del	XP_016867808.1:n.477+56_477+57del
XR_001744808.2:n.1253+56_1253+57del
XR_242246.5:n.2273+56_2273+57del
NM_000466.3:c.2226+56_2226+57del MANE Select	NP_000457.1:n.2226+56_2226+57del
NM_001282677.2:c.2055+56_2055+57del	NP_001269606.1:n.2055+56_2055+57del
NM_001282678.2:c.1602+56_1602+57del	NP_001269607.1:n.1602+56_1602+57del