Canonical Allele Identifier: CA2776946312

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502168_92502169insACA , CM000669.2:g.92502168_92502169insACA	GRCh38
NC_000007.13:g.92131482_92131483insACA , CM000669.1:g.92131482_92131483insACA	GRCh37
NC_000007.12:g.91969418_91969419insACA	NCBI36
NG_008341.1:g.31363_31364insTGT
NG_008341.2:g.31363_31364insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-90_2227-89insTGT MANE Select	ENSP00000248633.4:n.2227-90_2227-89insTGT
ENST00000248633.8:c.2227-90_2227-89insTGT	ENSP00000248633.4:n.2227-90_2227-89insTGT
ENST00000428214.5:c.2056-90_2056-89insTGT	ENSP00000394413.1:n.2056-90_2056-89insTGT
ENST00000438045.5:c.1261-90_1261-89insTGT	ENSP00000410438.1:n.1261-90_1261-89insTGT
ENST00000484913.5:n.2266-90_2266-89insTGT
ENST00000496092.1:n.25-90_25-89insTGT
ENST00000496420.5:n.1903-90_1903-89insTGT
NM_000466.2:c.2227-90_2227-89insTGT	NP_000457.1:n.2227-90_2227-89insTGT
NM_001282677.1:c.2056-90_2056-89insTGT	NP_001269606.1:n.2056-90_2056-89insTGT
NM_001282678.1:c.1603-90_1603-89insTGT	NP_001269607.1:n.1603-90_1603-89insTGT
XM_005250433.3:c.478-90_478-89insTGT	XP_005250490.1:n.478-90_478-89insTGT
XR_242246.3:n.2323-90_2323-89insTGT
XM_017012319.2:c.478-90_478-89insTGT	XP_016867808.1:n.478-90_478-89insTGT
XR_001744808.2:n.1254-90_1254-89insTGT
XR_242246.5:n.2274-90_2274-89insTGT
NM_000466.3:c.2227-90_2227-89insTGT MANE Select	NP_000457.1:n.2227-90_2227-89insTGT
NM_001282677.2:c.2056-90_2056-89insTGT	NP_001269606.1:n.2056-90_2056-89insTGT
NM_001282678.2:c.1603-90_1603-89insTGT	NP_001269607.1:n.1603-90_1603-89insTGT