Canonical Allele Identifier: CA1725931453

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494537_92494539delinsCGG , CM000669.2:g.92494537_92494539delinsCGG	GRCh38
NC_000007.13:g.92123851_92123853delinsCGG , CM000669.1:g.92123851_92123853delinsCGG	GRCh37
NC_000007.12:g.91961787_91961789delinsCGG	NCBI36
NG_008341.1:g.38993_38995delinsCCG
NG_008341.2:g.38993_38995delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2874_2876delinsCCG (PEX1) MANE Select	ENSP00000248633.4:p.Asp958=
ENST00000248633.8:c.2874_2876delinsCCG (PEX1)	ENSP00000248633.4:p.Asp958=
ENST00000428214.5:c.2703_2705delinsCCG (PEX1)	ENSP00000394413.1:p.Asp901=
ENST00000438045.5:c.1908_1910delinsCCG (PEX1)	ENSP00000410438.1:p.Asp636=
ENST00000484913.5:n.2913_2915delinsCCG (PEX1)
ENST00000496420.5:n.2766_2768delinsCCG (PEX1)
NM_000466.2:c.2874_2876delinsCCG (PEX1)	NP_000457.1:p.Asp958=
NM_001282677.1:c.2703_2705delinsCCG (PEX1)	NP_001269606.1:p.Asp901=
NM_001282678.1:c.2250_2252delinsCCG (PEX1)	NP_001269607.1:p.Asp750=
XM_005250433.3:c.1125_1127delinsCCG (PEX1)	XP_005250490.1:p.Asp375=
XR_242246.3:n.2970_2972delinsCCG (PEX1)
XM_017012319.2:c.1125_1127delinsCCG (PEX1)	XP_016867808.1:p.Asp375=
XR_001744808.2:n.1901_1903delinsCCG (PEX1)
XR_001744843.2:n.5506_5508delinsCGG (GATAD1)
XR_242246.5:n.2921_2923delinsCCG (PEX1)
XR_927494.3:n.4357_4359delinsCGG (GATAD1)
XR_927503.3:n.4288_4290delinsCGG (GATAD1)
NM_000466.3:c.2874_2876delinsCCG (PEX1) MANE Select	NP_000457.1:p.Asp958=
NM_001282677.2:c.2703_2705delinsCCG (PEX1)	NP_001269606.1:p.Asp901=
NM_001282678.2:c.2250_2252delinsCCG (PEX1)	NP_001269607.1:p.Asp750=