Canonical Allele Identifier: CA1725931387

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494498_92494501delinsTCTA , CM000669.2:g.92494498_92494501delinsTCTA	GRCh38
NC_000007.13:g.92123812_92123815delinsTCTA , CM000669.1:g.92123812_92123815delinsTCTA	GRCh37
NC_000007.12:g.91961748_91961751delinsTCTA	NCBI36
NG_008341.1:g.39031_39034delinsTAGA
NG_008341.2:g.39031_39034delinsTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2912_2915delinsTAGA (PEX1) MANE Select	ENSP00000248633.4:p.Val971=
ENST00000248633.8:c.2912_2915delinsTAGA (PEX1)	ENSP00000248633.4:p.Val971=
ENST00000428214.5:c.2741_2744delinsTAGA (PEX1)	ENSP00000394413.1:p.Val914=
ENST00000438045.5:c.1946_1949delinsTAGA (PEX1)	ENSP00000410438.1:p.Val649=
ENST00000484913.5:n.2951_2954delinsTAGA (PEX1)
ENST00000496420.5:n.2804_2807delinsTAGA (PEX1)
NM_000466.2:c.2912_2915delinsTAGA (PEX1)	NP_000457.1:p.Val971=
NM_001282677.1:c.2741_2744delinsTAGA (PEX1)	NP_001269606.1:p.Val914=
NM_001282678.1:c.2288_2291delinsTAGA (PEX1)	NP_001269607.1:p.Val763=
XM_005250433.3:c.1163_1166delinsTAGA (PEX1)	XP_005250490.1:p.Val388=
XR_242246.3:n.3008_3011delinsTAGA (PEX1)
XM_017012319.2:c.1163_1166delinsTAGA (PEX1)	XP_016867808.1:p.Val388=
XR_001744808.2:n.1939_1942delinsTAGA (PEX1)
XR_001744843.2:n.5467_5470delinsTCTA (GATAD1)
XR_242246.5:n.2959_2962delinsTAGA (PEX1)
XR_927494.3:n.4318_4321delinsTCTA (GATAD1)
XR_927503.3:n.4249_4252delinsTCTA (GATAD1)
NM_000466.3:c.2912_2915delinsTAGA (PEX1) MANE Select	NP_000457.1:p.Val971=
NM_001282677.2:c.2741_2744delinsTAGA (PEX1)	NP_001269606.1:p.Val914=
NM_001282678.2:c.2288_2291delinsTAGA (PEX1)	NP_001269607.1:p.Val763=