Canonical Allele Identifier: CA2776946685

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506382_92506383del , CM000669.2:g.92506382_92506383del	GRCh38
NC_000007.13:g.92135696_92135697del , CM000669.1:g.92135696_92135697del	GRCh37
NC_000007.12:g.91973632_91973633del	NCBI36
NG_008341.1:g.27149_27150del
NG_008341.2:g.27149_27150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-39_1804-38del MANE Select	ENSP00000248633.4:n.1804-39_1804-38del
ENST00000248633.8:c.1804-39_1804-38del	ENSP00000248633.4:n.1804-39_1804-38del
ENST00000422866.1:c.622-39_622-38del
ENST00000428214.5:c.1804-39_1804-38del	ENSP00000394413.1:n.1804-39_1804-38del
ENST00000438045.5:c.838-39_838-38del	ENSP00000410438.1:n.838-39_838-38del
ENST00000484913.5:n.1843-39_1843-38del
ENST00000496420.5:n.1441_1442del
NM_000466.2:c.1804-39_1804-38del	NP_000457.1:n.1804-39_1804-38del
NM_001282677.1:c.1804-39_1804-38del	NP_001269606.1:n.1804-39_1804-38del
NM_001282678.1:c.1180-39_1180-38del	NP_001269607.1:n.1180-39_1180-38del
XM_005250433.3:c.55-39_55-38del	XP_005250490.1:n.55-39_55-38del
XR_242246.3:n.1900-39_1900-38del
XM_017012319.2:c.55-39_55-38del	XP_016867808.1:n.55-39_55-38del
XR_001744808.2:n.831-39_831-38del
XR_242246.5:n.1851-39_1851-38del
NM_000466.3:c.1804-39_1804-38del MANE Select	NP_000457.1:n.1804-39_1804-38del
NM_001282677.2:c.1804-39_1804-38del	NP_001269606.1:n.1804-39_1804-38del
NM_001282678.2:c.1180-39_1180-38del	NP_001269607.1:n.1180-39_1180-38del