Canonical Allele Identifier: CA2776946788

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506443_92506459del , CM000669.2:g.92506443_92506459del	GRCh38
NC_000007.13:g.92135757_92135773del , CM000669.1:g.92135757_92135773del	GRCh37
NC_000007.12:g.91973693_91973709del	NCBI36
NG_008341.1:g.27074_27090del
NG_008341.2:g.27074_27090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-114_1804-98del MANE Select	ENSP00000248633.4:n.1804-114_1804-98del
ENST00000248633.8:c.1804-114_1804-98del	ENSP00000248633.4:n.1804-114_1804-98del
ENST00000422866.1:c.622-114_622-98del
ENST00000428214.5:c.1804-114_1804-98del	ENSP00000394413.1:n.1804-114_1804-98del
ENST00000438045.5:c.838-114_838-98del	ENSP00000410438.1:n.838-114_838-98del
ENST00000484913.5:n.1843-114_1843-98del
ENST00000496420.5:n.1366_1382del
NM_000466.2:c.1804-114_1804-98del	NP_000457.1:n.1804-114_1804-98del
NM_001282677.1:c.1804-114_1804-98del	NP_001269606.1:n.1804-114_1804-98del
NM_001282678.1:c.1180-114_1180-98del	NP_001269607.1:n.1180-114_1180-98del
XM_005250433.3:c.55-114_55-98del	XP_005250490.1:n.55-114_55-98del
XR_242246.3:n.1900-114_1900-98del
XM_017012319.2:c.55-114_55-98del	XP_016867808.1:n.55-114_55-98del
XR_001744808.2:n.831-114_831-98del
XR_242246.5:n.1851-114_1851-98del
NM_000466.3:c.1804-114_1804-98del MANE Select	NP_000457.1:n.1804-114_1804-98del
NM_001282677.2:c.1804-114_1804-98del	NP_001269606.1:n.1804-114_1804-98del
NM_001282678.2:c.1180-114_1180-98del	NP_001269607.1:n.1180-114_1180-98del