Canonical Allele Identifier: CA1725935158

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499715_92499716delinsTA , CM000669.2:g.92499715_92499716delinsTA	GRCh38
NC_000007.13:g.92129029_92129030delinsTA , CM000669.1:g.92129029_92129030delinsTA	GRCh37
NC_000007.12:g.91966965_91966966delinsTA	NCBI36
NG_008341.1:g.33816_33817delinsTA
NG_008341.2:g.33816_33817delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2706_2707delinsTA MANE Select	ENSP00000248633.4:p.Phe902=
ENST00000248633.8:c.2706_2707delinsTA	ENSP00000248633.4:p.Phe902=
ENST00000428214.5:c.2535_2536delinsTA	ENSP00000394413.1:p.Phe845=
ENST00000438045.5:c.1740_1741delinsTA	ENSP00000410438.1:p.Phe580=
ENST00000484913.5:n.2745_2746delinsTA
ENST00000496420.5:n.2598_2599delinsTA
NM_000466.2:c.2706_2707delinsTA	NP_000457.1:p.Phe902=
NM_001282677.1:c.2535_2536delinsTA	NP_001269606.1:p.Phe845=
NM_001282678.1:c.2082_2083delinsTA	NP_001269607.1:p.Phe694=
XM_005250433.3:c.957_958delinsTA	XP_005250490.1:p.Phe319=
XR_242246.3:n.2802_2803delinsTA
XM_017012319.2:c.957_958delinsTA	XP_016867808.1:p.Phe319=
XR_001744808.2:n.1733_1734delinsTA
XR_242246.5:n.2753_2754delinsTA
NM_000466.3:c.2706_2707delinsTA MANE Select	NP_000457.1:p.Phe902=
NM_001282677.2:c.2535_2536delinsTA	NP_001269606.1:p.Phe845=
NM_001282678.2:c.2082_2083delinsTA	NP_001269607.1:p.Phe694=