Canonical Allele Identifier: CA843847304

Gene: PEX1

Linked Data

• dbSNP Id: rs1477792055
• MyVariant Identifiers: chr7:g.92131537_92131538insGGGTA (hg19) ; chr7:g.92502223_92502224insGGGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502225_92502229dup , CM000669.2:g.92502225_92502229dup	GRCh38
NC_000007.13:g.92131539_92131543dup , CM000669.1:g.92131539_92131543dup	GRCh37
NC_000007.12:g.91969475_91969479dup	NCBI36
NG_008341.1:g.31304_31308dup
NG_008341.2:g.31304_31308dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-149_2227-145dup MANE Select	ENSP00000248633.4:n.2227-149_2227-145dup
ENST00000248633.8:c.2227-149_2227-145dup	ENSP00000248633.4:n.2227-149_2227-145dup
ENST00000428214.5:c.2056-149_2056-145dup	ENSP00000394413.1:n.2056-149_2056-145dup
ENST00000438045.5:c.1261-149_1261-145dup	ENSP00000410438.1:n.1261-149_1261-145dup
ENST00000484913.5:n.2266-149_2266-145dup
ENST00000496092.1:n.25-149_25-145dup
ENST00000496420.5:n.1903-149_1903-145dup
NM_000466.2:c.2227-149_2227-145dup	NP_000457.1:n.2227-149_2227-145dup
NM_001282677.1:c.2056-149_2056-145dup	NP_001269606.1:n.2056-149_2056-145dup
NM_001282678.1:c.1603-149_1603-145dup	NP_001269607.1:n.1603-149_1603-145dup
XM_005250433.3:c.478-149_478-145dup	XP_005250490.1:n.478-149_478-145dup
XR_242246.3:n.2323-149_2323-145dup
XM_017012319.2:c.478-149_478-145dup	XP_016867808.1:n.478-149_478-145dup
XR_001744808.2:n.1254-149_1254-145dup
XR_242246.5:n.2274-149_2274-145dup
NM_000466.3:c.2227-149_2227-145dup MANE Select	NP_000457.1:n.2227-149_2227-145dup
NM_001282677.2:c.2056-149_2056-145dup	NP_001269606.1:n.2056-149_2056-145dup
NM_001282678.2:c.1603-149_1603-145dup	NP_001269607.1:n.1603-149_1603-145dup