Canonical Allele Identifier: CA2776946751

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506411_92506412del , CM000669.2:g.92506411_92506412del	GRCh38
NC_000007.13:g.92135725_92135726del , CM000669.1:g.92135725_92135726del	GRCh37
NC_000007.12:g.91973661_91973662del	NCBI36
NG_008341.1:g.27120_27121del
NG_008341.2:g.27120_27121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-68_1804-67del MANE Select	ENSP00000248633.4:n.1804-68_1804-67del
ENST00000248633.8:c.1804-68_1804-67del	ENSP00000248633.4:n.1804-68_1804-67del
ENST00000422866.1:c.622-68_622-67del
ENST00000428214.5:c.1804-68_1804-67del	ENSP00000394413.1:n.1804-68_1804-67del
ENST00000438045.5:c.838-68_838-67del	ENSP00000410438.1:n.838-68_838-67del
ENST00000484913.5:n.1843-68_1843-67del
ENST00000496420.5:n.1412_1413del
NM_000466.2:c.1804-68_1804-67del	NP_000457.1:n.1804-68_1804-67del
NM_001282677.1:c.1804-68_1804-67del	NP_001269606.1:n.1804-68_1804-67del
NM_001282678.1:c.1180-68_1180-67del	NP_001269607.1:n.1180-68_1180-67del
XM_005250433.3:c.55-68_55-67del	XP_005250490.1:n.55-68_55-67del
XR_242246.3:n.1900-68_1900-67del
XM_017012319.2:c.55-68_55-67del	XP_016867808.1:n.55-68_55-67del
XR_001744808.2:n.831-68_831-67del
XR_242246.5:n.1851-68_1851-67del
NM_000466.3:c.1804-68_1804-67del MANE Select	NP_000457.1:n.1804-68_1804-67del
NM_001282677.2:c.1804-68_1804-67del	NP_001269606.1:n.1804-68_1804-67del
NM_001282678.2:c.1180-68_1180-67del	NP_001269607.1:n.1180-68_1180-67del