Canonical Allele Identifier: CA2776946543

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504995_92504996del , CM000669.2:g.92504995_92504996del	GRCh38
NC_000007.13:g.92134309_92134310del , CM000669.1:g.92134309_92134310del	GRCh37
NC_000007.12:g.91972245_91972246del	NCBI36
NG_008341.1:g.28536_28537del
NG_008341.2:g.28536_28537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-94_1901-93del MANE Select	ENSP00000248633.4:n.1901-94_1901-93del
ENST00000248633.8:c.1901-94_1901-93del	ENSP00000248633.4:n.1901-94_1901-93del
ENST00000422866.1:c.719-94_719-93del
ENST00000428214.5:c.1900+1252_1900+1253del	ENSP00000394413.1:n.1900+1252_1900+1253del
ENST00000438045.5:c.935-94_935-93del	ENSP00000410438.1:n.935-94_935-93del
ENST00000484913.5:n.1940-94_1940-93del
ENST00000496420.5:n.1577-94_1577-93del
NM_000466.2:c.1901-94_1901-93del	NP_000457.1:n.1901-94_1901-93del
NM_001282677.1:c.1900+1252_1900+1253del	NP_001269606.1:n.1900+1252_1900+1253del
NM_001282678.1:c.1277-94_1277-93del	NP_001269607.1:n.1277-94_1277-93del
XM_005250433.3:c.152-94_152-93del	XP_005250490.1:n.152-94_152-93del
XR_242246.3:n.1997-94_1997-93del
XM_017012319.2:c.152-94_152-93del	XP_016867808.1:n.152-94_152-93del
XR_001744808.2:n.928-94_928-93del
XR_242246.5:n.1948-94_1948-93del
NM_000466.3:c.1901-94_1901-93del MANE Select	NP_000457.1:n.1901-94_1901-93del
NM_001282677.2:c.1900+1252_1900+1253del	NP_001269606.1:n.1900+1252_1900+1253del
NM_001282678.2:c.1277-94_1277-93del	NP_001269607.1:n.1277-94_1277-93del