Canonical Allele Identifier: CA1725933255

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496674_92496676delinsCAG , CM000669.2:g.92496674_92496676delinsCAG	GRCh38
NC_000007.13:g.92125988_92125990delinsCAG , CM000669.1:g.92125988_92125990delinsCAG	GRCh37
NC_000007.12:g.91963924_91963926delinsCAG	NCBI36
NG_008341.1:g.36856_36858delinsCTG
NG_008341.2:g.36856_36858delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+37_2783+39delinsCTG MANE Select	ENSP00000248633.4:n.2783+37_2783+39delins...
ENST00000248633.8:c.2783+37_2783+39delinsCTG	ENSP00000248633.4:n.2783+37_2783+39delins...
ENST00000428214.5:c.2612+37_2612+39delinsCTG	ENSP00000394413.1:n.2612+37_2612+39delins...
ENST00000438045.5:c.1817+37_1817+39delinsCTG	ENSP00000410438.1:n.1817+37_1817+39delins...
ENST00000484913.5:n.2822+37_2822+39delinsCTG
ENST00000496420.5:n.2675+37_2675+39delinsCTG
NM_000466.2:c.2783+37_2783+39delinsCTG	NP_000457.1:n.2783+37_2783+39delinsCTG
NM_001282677.1:c.2612+37_2612+39delinsCTG	NP_001269606.1:n.2612+37_2612+39delinsCTG...
NM_001282678.1:c.2159+37_2159+39delinsCTG	NP_001269607.1:n.2159+37_2159+39delinsCTG...
XM_005250433.3:c.1034+37_1034+39delinsCTG	XP_005250490.1:n.1034+37_1034+39delinsCTG...
XR_242246.3:n.2879+37_2879+39delinsCTG
XM_017012319.2:c.1034+37_1034+39delinsCTG	XP_016867808.1:n.1034+37_1034+39delinsCTG...
XR_001744808.2:n.1810+37_1810+39delinsCTG
XR_242246.5:n.2830+37_2830+39delinsCTG
NM_000466.3:c.2783+37_2783+39delinsCTG MANE Select	NP_000457.1:n.2783+37_2783+39delinsCTG
NM_001282677.2:c.2612+37_2612+39delinsCTG	NP_001269606.1:n.2612+37_2612+39delinsCTG...
NM_001282678.2:c.2159+37_2159+39delinsCTG	NP_001269607.1:n.2159+37_2159+39delinsCTG...