Canonical Allele Identifier: CA2683718746

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504695_92504699del , CM000669.2:g.92504695_92504699del	GRCh38
NC_000007.13:g.92134009_92134013del , CM000669.1:g.92134009_92134013del	GRCh37
NC_000007.12:g.91971945_91971949del	NCBI36
NG_008341.1:g.28835_28839del
NG_008341.2:g.28835_28839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+35_2071+39del MANE Select	ENSP00000248633.4:n.2071+35_2071+39del
ENST00000248633.8:c.2071+35_2071+39del	ENSP00000248633.4:n.2071+35_2071+39del
ENST00000428214.5:c.1901-1502_1901-1498del	ENSP00000394413.1:n.1901-1502_1901-1498del
ENST00000438045.5:c.1105+35_1105+39del	ENSP00000410438.1:n.1105+35_1105+39del
ENST00000484913.5:n.2110+35_2110+39del
ENST00000496420.5:n.1747+35_1747+39del
NM_000466.2:c.2071+35_2071+39del	NP_000457.1:n.2071+35_2071+39del
NM_001282677.1:c.1901-1502_1901-1498del	NP_001269606.1:n.1901-1502_1901-1498del
NM_001282678.1:c.1447+35_1447+39del	NP_001269607.1:n.1447+35_1447+39del
XM_005250433.3:c.322+35_322+39del	XP_005250490.1:n.322+35_322+39del
XR_242246.3:n.2167+35_2167+39del
XM_017012319.2:c.322+35_322+39del	XP_016867808.1:n.322+35_322+39del
XR_001744808.2:n.1098+35_1098+39del
XR_242246.5:n.2118+35_2118+39del
NM_000466.3:c.2071+35_2071+39del MANE Select	NP_000457.1:n.2071+35_2071+39del
NM_001282677.2:c.1901-1502_1901-1498del	NP_001269606.1:n.1901-1502_1901-1498del
NM_001282678.2:c.1447+35_1447+39del	NP_001269607.1:n.1447+35_1447+39del