Canonical Allele Identifier: CA2776946809

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506463_92506549del , CM000669.2:g.92506463_92506549del	GRCh38
NC_000007.13:g.92135777_92135863del , CM000669.1:g.92135777_92135863del	GRCh37
NC_000007.12:g.91973713_91973799del	NCBI36
NG_008341.1:g.26990_27076del
NG_008341.2:g.26990_27076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-198_1804-112del MANE Select	ENSP00000248633.4:n.1804-198_1804-112del
ENST00000248633.8:c.1804-198_1804-112del	ENSP00000248633.4:n.1804-198_1804-112del
ENST00000422866.1:c.622-198_622-112del
ENST00000428214.5:c.1804-198_1804-112del	ENSP00000394413.1:n.1804-198_1804-112del
ENST00000438045.5:c.838-198_838-112del	ENSP00000410438.1:n.838-198_838-112del
ENST00000484913.5:n.1843-198_1843-112del
ENST00000496420.5:n.1282_1368del
NM_000466.2:c.1804-198_1804-112del	NP_000457.1:n.1804-198_1804-112del
NM_001282677.1:c.1804-198_1804-112del	NP_001269606.1:n.1804-198_1804-112del
NM_001282678.1:c.1180-198_1180-112del	NP_001269607.1:n.1180-198_1180-112del
XM_005250433.3:c.55-198_55-112del	XP_005250490.1:n.55-198_55-112del
XR_242246.3:n.1900-198_1900-112del
XM_017012319.2:c.55-198_55-112del	XP_016867808.1:n.55-198_55-112del
XR_001744808.2:n.831-198_831-112del
XR_242246.5:n.1851-198_1851-112del
NM_000466.3:c.1804-198_1804-112del MANE Select	NP_000457.1:n.1804-198_1804-112del
NM_001282677.2:c.1804-198_1804-112del	NP_001269606.1:n.1804-198_1804-112del
NM_001282678.2:c.1180-198_1180-112del	NP_001269607.1:n.1180-198_1180-112del