Canonical Allele Identifier: CA1725931929

Gene: PEX1

Linked Data

• dbSNP Id: rs1791573929

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494843_92494852del , CM000669.2:g.92494843_92494852del	GRCh38
NC_000007.13:g.92124157_92124166del , CM000669.1:g.92124157_92124166del	GRCh37
NC_000007.12:g.91962093_91962102del	NCBI36
NG_008341.1:g.38681_38690del
NG_008341.2:g.38681_38690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-222_2784-213del MANE Select	ENSP00000248633.4:n.2784-222_2784-213del
ENST00000248633.8:c.2784-222_2784-213del	ENSP00000248633.4:n.2784-222_2784-213del
ENST00000428214.5:c.2613-222_2613-213del	ENSP00000394413.1:n.2613-222_2613-213del
ENST00000438045.5:c.1818-222_1818-213del	ENSP00000410438.1:n.1818-222_1818-213del
ENST00000484913.5:n.2823-222_2823-213del
ENST00000496420.5:n.2676-222_2676-213del
NM_000466.2:c.2784-222_2784-213del	NP_000457.1:n.2784-222_2784-213del
NM_001282677.1:c.2613-222_2613-213del	NP_001269606.1:n.2613-222_2613-213del
NM_001282678.1:c.2160-222_2160-213del	NP_001269607.1:n.2160-222_2160-213del
XM_005250433.3:c.1035-222_1035-213del	XP_005250490.1:n.1035-222_1035-213del
XR_242246.3:n.2880-222_2880-213del
XM_017012319.2:c.1035-222_1035-213del	XP_016867808.1:n.1035-222_1035-213del
XR_001744808.2:n.1811-222_1811-213del
XR_242246.5:n.2831-222_2831-213del
NM_000466.3:c.2784-222_2784-213del MANE Select	NP_000457.1:n.2784-222_2784-213del
NM_001282677.2:c.2613-222_2613-213del	NP_001269606.1:n.2613-222_2613-213del
NM_001282678.2:c.2160-222_2160-213del	NP_001269607.1:n.2160-222_2160-213del