Canonical Allele Identifier: CA843847239

Gene: PEX1

Linked Data

• dbSNP Id: rs1287760301
• MyVariant Identifiers: chr7:g.92131436_92131449del (hg19) ; chr7:g.92502122_92502135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502123_92502136del , CM000669.2:g.92502123_92502136del	GRCh38
NC_000007.13:g.92131437_92131450del , CM000669.1:g.92131437_92131450del	GRCh37
NC_000007.12:g.91969373_91969386del	NCBI36
NG_008341.1:g.31397_31410del
NG_008341.2:g.31397_31410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2227-56_2227-43del MANE Select	ENSP00000248633.4:n.2227-56_2227-43del
ENST00000248633.8:c.2227-56_2227-43del	ENSP00000248633.4:n.2227-56_2227-43del
ENST00000428214.5:c.2056-56_2056-43del	ENSP00000394413.1:n.2056-56_2056-43del
ENST00000438045.5:c.1261-56_1261-43del	ENSP00000410438.1:n.1261-56_1261-43del
ENST00000484913.5:n.2266-56_2266-43del
ENST00000496092.1:n.25-56_25-43del
ENST00000496420.5:n.1903-56_1903-43del
NM_000466.2:c.2227-56_2227-43del	NP_000457.1:n.2227-56_2227-43del
NM_001282677.1:c.2056-56_2056-43del	NP_001269606.1:n.2056-56_2056-43del
NM_001282678.1:c.1603-56_1603-43del	NP_001269607.1:n.1603-56_1603-43del
XM_005250433.3:c.478-56_478-43del	XP_005250490.1:n.478-56_478-43del
XR_242246.3:n.2323-56_2323-43del
XM_017012319.2:c.478-56_478-43del	XP_016867808.1:n.478-56_478-43del
XR_001744808.2:n.1254-56_1254-43del
XR_242246.5:n.2274-56_2274-43del
NM_000466.3:c.2227-56_2227-43del MANE Select	NP_000457.1:n.2227-56_2227-43del
NM_001282677.2:c.2056-56_2056-43del	NP_001269606.1:n.2056-56_2056-43del
NM_001282678.2:c.1603-56_1603-43del	NP_001269607.1:n.1603-56_1603-43del