Canonical Allele Identifier: CA3005625715

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496659_92496678dup , CM000669.2:g.92496659_92496678dup	GRCh38
NC_000007.13:g.92125973_92125992dup , CM000669.1:g.92125973_92125992dup	GRCh37
NC_000007.12:g.91963909_91963928dup	NCBI36
NG_008341.1:g.36855_36874dup
NG_008341.2:g.36855_36874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+36_2783+55dup MANE Select	ENSP00000248633.4:n.2783+36_2783+55dup
ENST00000248633.8:c.2783+36_2783+55dup	ENSP00000248633.4:n.2783+36_2783+55dup
ENST00000428214.5:c.2612+36_2612+55dup	ENSP00000394413.1:n.2612+36_2612+55dup
ENST00000438045.5:c.1817+36_1817+55dup	ENSP00000410438.1:n.1817+36_1817+55dup
ENST00000484913.5:n.2822+36_2822+55dup
ENST00000496420.5:n.2675+36_2675+55dup
NM_000466.2:c.2783+36_2783+55dup	NP_000457.1:n.2783+36_2783+55dup
NM_001282677.1:c.2612+36_2612+55dup	NP_001269606.1:n.2612+36_2612+55dup
NM_001282678.1:c.2159+36_2159+55dup	NP_001269607.1:n.2159+36_2159+55dup
XM_005250433.3:c.1034+36_1034+55dup	XP_005250490.1:n.1034+36_1034+55dup
XR_242246.3:n.2879+36_2879+55dup
XM_017012319.2:c.1034+36_1034+55dup	XP_016867808.1:n.1034+36_1034+55dup
XR_001744808.2:n.1810+36_1810+55dup
XR_242246.5:n.2830+36_2830+55dup
NM_000466.3:c.2783+36_2783+55dup MANE Select	NP_000457.1:n.2783+36_2783+55dup
NM_001282677.2:c.2612+36_2612+55dup	NP_001269606.1:n.2612+36_2612+55dup
NM_001282678.2:c.2159+36_2159+55dup	NP_001269607.1:n.2159+36_2159+55dup