Canonical Allele Identifier: CA1725941449

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506461_92506464delinsCAAA , CM000669.2:g.92506461_92506464delinsCAAA	GRCh38
NC_000007.13:g.92135775_92135778delinsCAAA , CM000669.1:g.92135775_92135778delinsCAAA	GRCh37
NC_000007.12:g.91973711_91973714delinsCAAA	NCBI36
NG_008341.1:g.27068_27071delinsTTTG
NG_008341.2:g.27068_27071delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-120_1804-117delinsTTTG MANE Select	ENSP00000248633.4:n.1804-120_1804-117delinsTTTG
ENST00000248633.8:c.1804-120_1804-117delinsTTTG	ENSP00000248633.4:n.1804-120_1804-117delinsTTTG
ENST00000422866.1:c.622-120_622-117delinsTTTG
ENST00000428214.5:c.1804-120_1804-117delinsTTTG	ENSP00000394413.1:n.1804-120_1804-117delinsTTTG
ENST00000438045.5:c.838-120_838-117delinsTTTG	ENSP00000410438.1:n.838-120_838-117delinsTTTG
ENST00000484913.5:n.1843-120_1843-117delinsTTTG
ENST00000496420.5:n.1360_1363delinsTTTG
NM_000466.2:c.1804-120_1804-117delinsTTTG	NP_000457.1:n.1804-120_1804-117delinsTTTG
NM_001282677.1:c.1804-120_1804-117delinsTTTG	NP_001269606.1:n.1804-120_1804-117delinsTTTG
NM_001282678.1:c.1180-120_1180-117delinsTTTG	NP_001269607.1:n.1180-120_1180-117delinsTTTG
XM_005250433.3:c.55-120_55-117delinsTTTG	XP_005250490.1:n.55-120_55-117delinsTTTG
XR_242246.3:n.1900-120_1900-117delinsTTTG
XM_017012319.2:c.55-120_55-117delinsTTTG	XP_016867808.1:n.55-120_55-117delinsTTTG
XR_001744808.2:n.831-120_831-117delinsTTTG
XR_242246.5:n.1851-120_1851-117delinsTTTG
NM_000466.3:c.1804-120_1804-117delinsTTTG MANE Select	NP_000457.1:n.1804-120_1804-117delinsTTTG
NM_001282677.2:c.1804-120_1804-117delinsTTTG	NP_001269606.1:n.1804-120_1804-117delinsTTTG
NM_001282678.2:c.1180-120_1180-117delinsTTTG	NP_001269607.1:n.1180-120_1180-117delinsTTTG