Canonical Allele Identifier: CA2776946759

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506422_92506426del , CM000669.2:g.92506422_92506426del	GRCh38
NC_000007.13:g.92135736_92135740del , CM000669.1:g.92135736_92135740del	GRCh37
NC_000007.12:g.91973672_91973676del	NCBI36
NG_008341.1:g.27106_27110del
NG_008341.2:g.27106_27110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-82_1804-78del MANE Select	ENSP00000248633.4:n.1804-82_1804-78del
ENST00000248633.8:c.1804-82_1804-78del	ENSP00000248633.4:n.1804-82_1804-78del
ENST00000422866.1:c.622-82_622-78del
ENST00000428214.5:c.1804-82_1804-78del	ENSP00000394413.1:n.1804-82_1804-78del
ENST00000438045.5:c.838-82_838-78del	ENSP00000410438.1:n.838-82_838-78del
ENST00000484913.5:n.1843-82_1843-78del
ENST00000496420.5:n.1398_1402del
NM_000466.2:c.1804-82_1804-78del	NP_000457.1:n.1804-82_1804-78del
NM_001282677.1:c.1804-82_1804-78del	NP_001269606.1:n.1804-82_1804-78del
NM_001282678.1:c.1180-82_1180-78del	NP_001269607.1:n.1180-82_1180-78del
XM_005250433.3:c.55-82_55-78del	XP_005250490.1:n.55-82_55-78del
XR_242246.3:n.1900-82_1900-78del
XM_017012319.2:c.55-82_55-78del	XP_016867808.1:n.55-82_55-78del
XR_001744808.2:n.831-82_831-78del
XR_242246.5:n.1851-82_1851-78del
NM_000466.3:c.1804-82_1804-78del MANE Select	NP_000457.1:n.1804-82_1804-78del
NM_001282677.2:c.1804-82_1804-78del	NP_001269606.1:n.1804-82_1804-78del
NM_001282678.2:c.1180-82_1180-78del	NP_001269607.1:n.1180-82_1180-78del