Canonical Allele Identifier: CA2776946256

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502114_92502121del , CM000669.2:g.92502114_92502121del	GRCh38
NC_000007.13:g.92131428_92131435del , CM000669.1:g.92131428_92131435del	GRCh37
NC_000007.12:g.91969364_91969371del	NCBI36
NG_008341.1:g.31411_31418del
NG_008341.2:g.31411_31418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-42_2227-35del MANE Select	ENSP00000248633.4:n.2227-42_2227-35del
ENST00000248633.8:c.2227-42_2227-35del	ENSP00000248633.4:n.2227-42_2227-35del
ENST00000428214.5:c.2056-42_2056-35del	ENSP00000394413.1:n.2056-42_2056-35del
ENST00000438045.5:c.1261-42_1261-35del	ENSP00000410438.1:n.1261-42_1261-35del
ENST00000484913.5:n.2266-42_2266-35del
ENST00000496092.1:n.25-42_25-35del
ENST00000496420.5:n.1903-42_1903-35del
NM_000466.2:c.2227-42_2227-35del	NP_000457.1:n.2227-42_2227-35del
NM_001282677.1:c.2056-42_2056-35del	NP_001269606.1:n.2056-42_2056-35del
NM_001282678.1:c.1603-42_1603-35del	NP_001269607.1:n.1603-42_1603-35del
XM_005250433.3:c.478-42_478-35del	XP_005250490.1:n.478-42_478-35del
XR_242246.3:n.2323-42_2323-35del
XM_017012319.2:c.478-42_478-35del	XP_016867808.1:n.478-42_478-35del
XR_001744808.2:n.1254-42_1254-35del
XR_242246.5:n.2274-42_2274-35del
NM_000466.3:c.2227-42_2227-35del MANE Select	NP_000457.1:n.2227-42_2227-35del
NM_001282677.2:c.2056-42_2056-35del	NP_001269606.1:n.2056-42_2056-35del
NM_001282678.2:c.1603-42_1603-35del	NP_001269607.1:n.1603-42_1603-35del