Canonical Allele Identifier: CA1725936260

Gene: PEX1

Linked Data

• dbSNP Id: rs1791968368

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502269_92502272del , CM000669.2:g.92502269_92502272del	GRCh38
NC_000007.13:g.92131583_92131586del , CM000669.1:g.92131583_92131586del	GRCh37
NC_000007.12:g.91969519_91969522del	NCBI36
NG_008341.1:g.31265_31268del
NG_008341.2:g.31265_31268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-188_2227-185del MANE Select	ENSP00000248633.4:n.2227-188_2227-185del
ENST00000248633.8:c.2227-188_2227-185del	ENSP00000248633.4:n.2227-188_2227-185del
ENST00000428214.5:c.2056-188_2056-185del	ENSP00000394413.1:n.2056-188_2056-185del
ENST00000438045.5:c.1261-188_1261-185del	ENSP00000410438.1:n.1261-188_1261-185del
ENST00000484913.5:n.2266-188_2266-185del
ENST00000496092.1:n.25-188_25-185del
ENST00000496420.5:n.1903-188_1903-185del
NM_000466.2:c.2227-188_2227-185del	NP_000457.1:n.2227-188_2227-185del
NM_001282677.1:c.2056-188_2056-185del	NP_001269606.1:n.2056-188_2056-185del
NM_001282678.1:c.1603-188_1603-185del	NP_001269607.1:n.1603-188_1603-185del
XM_005250433.3:c.478-188_478-185del	XP_005250490.1:n.478-188_478-185del
XR_242246.3:n.2323-188_2323-185del
XM_017012319.2:c.478-188_478-185del	XP_016867808.1:n.478-188_478-185del
XR_001744808.2:n.1254-188_1254-185del
XR_242246.5:n.2274-188_2274-185del
NM_000466.3:c.2227-188_2227-185del MANE Select	NP_000457.1:n.2227-188_2227-185del
NM_001282677.2:c.2056-188_2056-185del	NP_001269606.1:n.2056-188_2056-185del
NM_001282678.2:c.1603-188_1603-185del	NP_001269607.1:n.1603-188_1603-185del