Canonical Allele Identifier: CA2776946536

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504994_92505001del , CM000669.2:g.92504994_92505001del	GRCh38
NC_000007.13:g.92134308_92134315del , CM000669.1:g.92134308_92134315del	GRCh37
NC_000007.12:g.91972244_91972251del	NCBI36
NG_008341.1:g.28533_28540del
NG_008341.2:g.28533_28540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-97_1901-90del MANE Select	ENSP00000248633.4:n.1901-97_1901-90del
ENST00000248633.8:c.1901-97_1901-90del	ENSP00000248633.4:n.1901-97_1901-90del
ENST00000422866.1:c.719-97_719-90del
ENST00000428214.5:c.1900+1249_1900+1256del	ENSP00000394413.1:n.1900+1249_1900+1256del
ENST00000438045.5:c.935-97_935-90del	ENSP00000410438.1:n.935-97_935-90del
ENST00000484913.5:n.1940-97_1940-90del
ENST00000496420.5:n.1577-97_1577-90del
NM_000466.2:c.1901-97_1901-90del	NP_000457.1:n.1901-97_1901-90del
NM_001282677.1:c.1900+1249_1900+1256del	NP_001269606.1:n.1900+1249_1900+1256del
NM_001282678.1:c.1277-97_1277-90del	NP_001269607.1:n.1277-97_1277-90del
XM_005250433.3:c.152-97_152-90del	XP_005250490.1:n.152-97_152-90del
XR_242246.3:n.1997-97_1997-90del
XM_017012319.2:c.152-97_152-90del	XP_016867808.1:n.152-97_152-90del
XR_001744808.2:n.928-97_928-90del
XR_242246.5:n.1948-97_1948-90del
NM_000466.3:c.1901-97_1901-90del MANE Select	NP_000457.1:n.1901-97_1901-90del
NM_001282677.2:c.1900+1249_1900+1256del	NP_001269606.1:n.1900+1249_1900+1256del
NM_001282678.2:c.1277-97_1277-90del	NP_001269607.1:n.1277-97_1277-90del