Canonical Allele Identifier: CA1725928666

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491556_92491560delinsGAAAT , CM000669.2:g.92491556_92491560delinsGAAAT	GRCh38
NC_000007.13:g.92120870_92120874delinsGAAAT , CM000669.1:g.92120870_92120874delinsGAAAT	GRCh37
NC_000007.12:g.91958806_91958810delinsGAAAT	NCBI36
NG_008341.1:g.41972_41976delinsATTTC
NG_008341.2:g.41972_41976delinsATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-58_3208-54delinsATTTC (PEX1) MANE Select	ENSP00000248633.4:n.3208-58_3208-54delinsATTTC
ENST00000248633.8:c.3208-58_3208-54delinsATTTC (PEX1)	ENSP00000248633.4:n.3208-58_3208-54delinsATTTC
ENST00000428214.5:c.3037-58_3037-54delinsATTTC (PEX1)	ENSP00000394413.1:n.3037-58_3037-54delinsATTTC
ENST00000438045.5:c.2242-58_2242-54delinsATTTC (PEX1)	ENSP00000410438.1:n.2242-58_2242-54delinsATTTC
ENST00000484913.5:n.3247-58_3247-54delinsATTTC (PEX1)
ENST00000496420.5:n.4263-58_4263-54delinsATTTC (PEX1)
NM_000466.2:c.3208-58_3208-54delinsATTTC (PEX1)	NP_000457.1:n.3208-58_3208-54delinsATTTC
NM_001282677.1:c.3037-58_3037-54delinsATTTC (PEX1)	NP_001269606.1:n.3037-58_3037-54delinsATTTC
NM_001282678.1:c.2584-58_2584-54delinsATTTC (PEX1)	NP_001269607.1:n.2584-58_2584-54delinsATTTC
XM_005250433.3:c.1459-58_1459-54delinsATTTC (PEX1)	XP_005250490.1:n.1459-58_1459-54delinsATTTC
XR_242246.3:n.3304-58_3304-54delinsATTTC (PEX1)
XM_017012319.2:c.1459-58_1459-54delinsATTTC (PEX1)	XP_016867808.1:n.1459-58_1459-54delinsATTTC
XR_001744808.2:n.2235-58_2235-54delinsATTTC (PEX1)
XR_001744842.2:n.2594_2598delinsGAAAT (GATAD1)
XR_001744843.2:n.2525_2529delinsGAAAT (GATAD1)
XR_002956472.1:n.2651_2655delinsGAAAT (GATAD1)
XR_002956473.1:n.2682_2686delinsGAAAT (GATAD1)
XR_002956474.1:n.2599_2603delinsGAAAT (GATAD1)
XR_242246.5:n.3255-58_3255-54delinsATTTC (PEX1)
XR_927494.3:n.1376_1380delinsGAAAT (GATAD1)
XR_927500.3:n.1373_1377delinsGAAAT (GATAD1)
XR_927503.3:n.1307_1311delinsGAAAT (GATAD1)
NM_000466.3:c.3208-58_3208-54delinsATTTC (PEX1) MANE Select	NP_000457.1:n.3208-58_3208-54delinsATTTC
NM_001282677.2:c.3037-58_3037-54delinsATTTC (PEX1)	NP_001269606.1:n.3037-58_3037-54delinsATTTC
NM_001282678.2:c.2584-58_2584-54delinsATTTC (PEX1)	NP_001269607.1:n.2584-58_2584-54delinsATTTC