Canonical Allele Identifier: CA1725931208

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494401_92494402delinsAG , CM000669.2:g.92494401_92494402delinsAG	GRCh38
NC_000007.13:g.92123715_92123716delinsAG , CM000669.1:g.92123715_92123716delinsAG	GRCh37
NC_000007.12:g.91961651_91961652delinsAG	NCBI36
NG_008341.1:g.39130_39131delinsCT
NG_008341.2:g.39130_39131delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2927-6_2927-5delinsCT (PEX1) MANE Select	ENSP00000248633.4:n.2927-6_2927-5delinsCT...
ENST00000248633.8:c.2927-6_2927-5delinsCT (PEX1)	ENSP00000248633.4:n.2927-6_2927-5delinsCT...
ENST00000428214.5:c.2756-6_2756-5delinsCT (PEX1)	ENSP00000394413.1:n.2756-6_2756-5delinsCT...
ENST00000438045.5:c.1961-6_1961-5delinsCT (PEX1)	ENSP00000410438.1:n.1961-6_1961-5delinsCT...
ENST00000484913.5:n.2966-6_2966-5delinsCT (PEX1)
ENST00000496420.5:n.2819-6_2819-5delinsCT (PEX1)
NM_000466.2:c.2927-6_2927-5delinsCT (PEX1)	NP_000457.1:n.2927-6_2927-5delinsCT
NM_001282677.1:c.2756-6_2756-5delinsCT (PEX1)	NP_001269606.1:n.2756-6_2756-5delinsCT
NM_001282678.1:c.2303-6_2303-5delinsCT (PEX1)	NP_001269607.1:n.2303-6_2303-5delinsCT
XM_005250433.3:c.1178-6_1178-5delinsCT (PEX1)	XP_005250490.1:n.1178-6_1178-5delinsCT
XR_242246.3:n.3023-6_3023-5delinsCT (PEX1)
XM_017012319.2:c.1178-6_1178-5delinsCT (PEX1)	XP_016867808.1:n.1178-6_1178-5delinsCT
XR_001744808.2:n.1954-6_1954-5delinsCT (PEX1)
XR_001744843.2:n.5370_5371delinsAG (GATAD1)
XR_242246.5:n.2974-6_2974-5delinsCT (PEX1)
XR_927494.3:n.4221_4222delinsAG (GATAD1)
XR_927503.3:n.4152_4153delinsAG (GATAD1)
NM_000466.3:c.2927-6_2927-5delinsCT (PEX1) MANE Select	NP_000457.1:n.2927-6_2927-5delinsCT
NM_001282677.2:c.2756-6_2756-5delinsCT (PEX1)	NP_001269606.1:n.2756-6_2756-5delinsCT
NM_001282678.2:c.2303-6_2303-5delinsCT (PEX1)	NP_001269607.1:n.2303-6_2303-5delinsCT