Canonical Allele Identifier: CA2776946460

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504949_92504952del , CM000669.2:g.92504949_92504952del	GRCh38
NC_000007.13:g.92134263_92134266del , CM000669.1:g.92134263_92134266del	GRCh37
NC_000007.12:g.91972199_91972202del	NCBI36
NG_008341.1:g.28580_28583del
NG_008341.2:g.28580_28583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-50_1901-47del MANE Select	ENSP00000248633.4:n.1901-50_1901-47del
ENST00000248633.8:c.1901-50_1901-47del	ENSP00000248633.4:n.1901-50_1901-47del
ENST00000422866.1:c.719-50_719-47del
ENST00000428214.5:c.1900+1296_1900+1299del	ENSP00000394413.1:n.1900+1296_1900+1299del
ENST00000438045.5:c.935-50_935-47del	ENSP00000410438.1:n.935-50_935-47del
ENST00000484913.5:n.1940-50_1940-47del
ENST00000496420.5:n.1577-50_1577-47del
NM_000466.2:c.1901-50_1901-47del	NP_000457.1:n.1901-50_1901-47del
NM_001282677.1:c.1900+1296_1900+1299del	NP_001269606.1:n.1900+1296_1900+1299del
NM_001282678.1:c.1277-50_1277-47del	NP_001269607.1:n.1277-50_1277-47del
XM_005250433.3:c.152-50_152-47del	XP_005250490.1:n.152-50_152-47del
XR_242246.3:n.1997-50_1997-47del
XM_017012319.2:c.152-50_152-47del	XP_016867808.1:n.152-50_152-47del
XR_001744808.2:n.928-50_928-47del
XR_242246.5:n.1948-50_1948-47del
NM_000466.3:c.1901-50_1901-47del MANE Select	NP_000457.1:n.1901-50_1901-47del
NM_001282677.2:c.1900+1296_1900+1299del	NP_001269606.1:n.1900+1296_1900+1299del
NM_001282678.2:c.1277-50_1277-47del	NP_001269607.1:n.1277-50_1277-47del