Canonical Allele Identifier: CA2776946443

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504596_92504661del , CM000669.2:g.92504596_92504661del	GRCh38
NC_000007.13:g.92133910_92133975del , CM000669.1:g.92133910_92133975del	GRCh37
NC_000007.12:g.91971846_91971911del	NCBI36
NG_008341.1:g.28876_28941del
NG_008341.2:g.28876_28941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+76_2071+141del MANE Select	ENSP00000248633.4:n.2071+76_2071+141del
ENST00000248633.8:c.2071+76_2071+141del	ENSP00000248633.4:n.2071+76_2071+141del
ENST00000428214.5:c.1901-1461_1901-1396del	ENSP00000394413.1:n.1901-1461_1901-1396del
ENST00000438045.5:c.1105+76_1105+141del	ENSP00000410438.1:n.1105+76_1105+141del
ENST00000484913.5:n.2110+76_2110+141del
ENST00000496420.5:n.1747+76_1747+141del
NM_000466.2:c.2071+76_2071+141del	NP_000457.1:n.2071+76_2071+141del
NM_001282677.1:c.1901-1461_1901-1396del	NP_001269606.1:n.1901-1461_1901-1396del
NM_001282678.1:c.1447+76_1447+141del	NP_001269607.1:n.1447+76_1447+141del
XM_005250433.3:c.322+76_322+141del	XP_005250490.1:n.322+76_322+141del
XR_242246.3:n.2167+76_2167+141del
XM_017012319.2:c.322+76_322+141del	XP_016867808.1:n.322+76_322+141del
XR_001744808.2:n.1098+76_1098+141del
XR_242246.5:n.2118+76_2118+141del
NM_000466.3:c.2071+76_2071+141del MANE Select	NP_000457.1:n.2071+76_2071+141del
NM_001282677.2:c.1901-1461_1901-1396del	NP_001269606.1:n.1901-1461_1901-1396del
NM_001282678.2:c.1447+76_1447+141del	NP_001269607.1:n.1447+76_1447+141del