Canonical Allele Identifier: CA2776946324

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502191_92502192insTAGTAA , CM000669.2:g.92502191_92502192insTAGTAA	GRCh38
NC_000007.13:g.92131505_92131506insTAGTAA , CM000669.1:g.92131505_92131506insTAGTAA	GRCh37
NC_000007.12:g.91969441_91969442insTAGTAA	NCBI36
NG_008341.1:g.31340_31341insTTACTA
NG_008341.2:g.31340_31341insTTACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-113_2227-112insTTACTA MANE Select	ENSP00000248633.4:n.2227-113_2227-112insTTACTA
ENST00000248633.8:c.2227-113_2227-112insTTACTA	ENSP00000248633.4:n.2227-113_2227-112insTTACTA
ENST00000428214.5:c.2056-113_2056-112insTTACTA	ENSP00000394413.1:n.2056-113_2056-112insTTACTA
ENST00000438045.5:c.1261-113_1261-112insTTACTA	ENSP00000410438.1:n.1261-113_1261-112insTTACTA
ENST00000484913.5:n.2266-113_2266-112insTTACTA
ENST00000496092.1:n.25-113_25-112insTTACTA
ENST00000496420.5:n.1903-113_1903-112insTTACTA
NM_000466.2:c.2227-113_2227-112insTTACTA	NP_000457.1:n.2227-113_2227-112insTTACTA
NM_001282677.1:c.2056-113_2056-112insTTACTA	NP_001269606.1:n.2056-113_2056-112insTTACTA
NM_001282678.1:c.1603-113_1603-112insTTACTA	NP_001269607.1:n.1603-113_1603-112insTTACTA
XM_005250433.3:c.478-113_478-112insTTACTA	XP_005250490.1:n.478-113_478-112insTTACTA
XR_242246.3:n.2323-113_2323-112insTTACTA
XM_017012319.2:c.478-113_478-112insTTACTA	XP_016867808.1:n.478-113_478-112insTTACTA
XR_001744808.2:n.1254-113_1254-112insTTACTA
XR_242246.5:n.2274-113_2274-112insTTACTA
NM_000466.3:c.2227-113_2227-112insTTACTA MANE Select	NP_000457.1:n.2227-113_2227-112insTTACTA
NM_001282677.2:c.2056-113_2056-112insTTACTA	NP_001269606.1:n.2056-113_2056-112insTTACTA
NM_001282678.2:c.1603-113_1603-112insTTACTA	NP_001269607.1:n.1603-113_1603-112insTTACTA