Canonical Allele Identifier: CA2776946680

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506372_92506374del , CM000669.2:g.92506372_92506374del	GRCh38
NC_000007.13:g.92135686_92135688del , CM000669.1:g.92135686_92135688del	GRCh37
NC_000007.12:g.91973622_91973624del	NCBI36
NG_008341.1:g.27158_27160del
NG_008341.2:g.27158_27160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-30_1804-28del MANE Select	ENSP00000248633.4:n.1804-30_1804-28del
ENST00000248633.8:c.1804-30_1804-28del	ENSP00000248633.4:n.1804-30_1804-28del
ENST00000422866.1:c.622-30_622-28del
ENST00000428214.5:c.1804-30_1804-28del	ENSP00000394413.1:n.1804-30_1804-28del
ENST00000438045.5:c.838-30_838-28del	ENSP00000410438.1:n.838-30_838-28del
ENST00000484913.5:n.1843-30_1843-28del
ENST00000496420.5:n.1450_1452del
NM_000466.2:c.1804-30_1804-28del	NP_000457.1:n.1804-30_1804-28del
NM_001282677.1:c.1804-30_1804-28del	NP_001269606.1:n.1804-30_1804-28del
NM_001282678.1:c.1180-30_1180-28del	NP_001269607.1:n.1180-30_1180-28del
XM_005250433.3:c.55-30_55-28del	XP_005250490.1:n.55-30_55-28del
XR_242246.3:n.1900-30_1900-28del
XM_017012319.2:c.55-30_55-28del	XP_016867808.1:n.55-30_55-28del
XR_001744808.2:n.831-30_831-28del
XR_242246.5:n.1851-30_1851-28del
NM_000466.3:c.1804-30_1804-28del MANE Select	NP_000457.1:n.1804-30_1804-28del
NM_001282677.2:c.1804-30_1804-28del	NP_001269606.1:n.1804-30_1804-28del
NM_001282678.2:c.1180-30_1180-28del	NP_001269607.1:n.1180-30_1180-28del