Canonical Allele Identifier: CA2776946498

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504970_92504971del , CM000669.2:g.92504970_92504971del	GRCh38
NC_000007.13:g.92134284_92134285del , CM000669.1:g.92134284_92134285del	GRCh37
NC_000007.12:g.91972220_91972221del	NCBI36
NG_008341.1:g.28561_28562del
NG_008341.2:g.28561_28562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-69_1901-68del MANE Select	ENSP00000248633.4:n.1901-69_1901-68del
ENST00000248633.8:c.1901-69_1901-68del	ENSP00000248633.4:n.1901-69_1901-68del
ENST00000422866.1:c.719-69_719-68del
ENST00000428214.5:c.1900+1277_1900+1278del	ENSP00000394413.1:n.1900+1277_1900+1278del
ENST00000438045.5:c.935-69_935-68del	ENSP00000410438.1:n.935-69_935-68del
ENST00000484913.5:n.1940-69_1940-68del
ENST00000496420.5:n.1577-69_1577-68del
NM_000466.2:c.1901-69_1901-68del	NP_000457.1:n.1901-69_1901-68del
NM_001282677.1:c.1900+1277_1900+1278del	NP_001269606.1:n.1900+1277_1900+1278del
NM_001282678.1:c.1277-69_1277-68del	NP_001269607.1:n.1277-69_1277-68del
XM_005250433.3:c.152-69_152-68del	XP_005250490.1:n.152-69_152-68del
XR_242246.3:n.1997-69_1997-68del
XM_017012319.2:c.152-69_152-68del	XP_016867808.1:n.152-69_152-68del
XR_001744808.2:n.928-69_928-68del
XR_242246.5:n.1948-69_1948-68del
NM_000466.3:c.1901-69_1901-68del MANE Select	NP_000457.1:n.1901-69_1901-68del
NM_001282677.2:c.1900+1277_1900+1278del	NP_001269606.1:n.1900+1277_1900+1278del
NM_001282678.2:c.1277-69_1277-68del	NP_001269607.1:n.1277-69_1277-68del