Canonical Allele Identifier: CA2776946178

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496685_92496686insAAA , CM000669.2:g.92496685_92496686insAAA	GRCh38
NC_000007.13:g.92125999_92126000insAAA , CM000669.1:g.92125999_92126000insAAA	GRCh37
NC_000007.12:g.91963935_91963936insAAA	NCBI36
NG_008341.1:g.36847_36848insTTT
NG_008341.2:g.36847_36848insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+28_2783+29insTTT MANE Select	ENSP00000248633.4:n.2783+28_2783+29insTTT
ENST00000248633.8:c.2783+28_2783+29insTTT	ENSP00000248633.4:n.2783+28_2783+29insTTT
ENST00000428214.5:c.2612+28_2612+29insTTT	ENSP00000394413.1:n.2612+28_2612+29insTTT
ENST00000438045.5:c.1817+28_1817+29insTTT	ENSP00000410438.1:n.1817+28_1817+29insTTT
ENST00000484913.5:n.2822+28_2822+29insTTT
ENST00000496420.5:n.2675+28_2675+29insTTT
NM_000466.2:c.2783+28_2783+29insTTT	NP_000457.1:n.2783+28_2783+29insTTT
NM_001282677.1:c.2612+28_2612+29insTTT	NP_001269606.1:n.2612+28_2612+29insTTT
NM_001282678.1:c.2159+28_2159+29insTTT	NP_001269607.1:n.2159+28_2159+29insTTT
XM_005250433.3:c.1034+28_1034+29insTTT	XP_005250490.1:n.1034+28_1034+29insTTT
XR_242246.3:n.2879+28_2879+29insTTT
XM_017012319.2:c.1034+28_1034+29insTTT	XP_016867808.1:n.1034+28_1034+29insTTT
XR_001744808.2:n.1810+28_1810+29insTTT
XR_242246.5:n.2830+28_2830+29insTTT
NM_000466.3:c.2783+28_2783+29insTTT MANE Select	NP_000457.1:n.2783+28_2783+29insTTT
NM_001282677.2:c.2612+28_2612+29insTTT	NP_001269606.1:n.2612+28_2612+29insTTT
NM_001282678.2:c.2159+28_2159+29insTTT	NP_001269607.1:n.2159+28_2159+29insTTT