Canonical Allele Identifier: CA2776945934

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494629_92494630insACTA , CM000669.2:g.92494629_92494630insACTA	GRCh38
NC_000007.13:g.92123943_92123944insACTA , CM000669.1:g.92123943_92123944insACTA	GRCh37
NC_000007.12:g.91961879_91961880insACTA	NCBI36
NG_008341.1:g.38902_38903insTAGT
NG_008341.2:g.38902_38903insTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-1_2784insTAGT (PEX1) MANE Select	ENSP00000248633.4:n.2784-1_2784insTAGT
ENST00000248633.8:c.2784-1_2784insTAGT (PEX1)	ENSP00000248633.4:n.2784-1_2784insTAGT
ENST00000428214.5:c.2613-1_2613insTAGT (PEX1)	ENSP00000394413.1:n.2613-1_2613insTAGT
ENST00000438045.5:c.1818-1_1818insTAGT (PEX1)	ENSP00000410438.1:n.1818-1_1818insTAGT
ENST00000484913.5:n.2823-1_2823insTAGT (PEX1)
ENST00000496420.5:n.2676-1_2676insTAGT (PEX1)
NM_000466.2:c.2784-1_2784insTAGT (PEX1)	NP_000457.1:n.2784-1_2784insTAGT
NM_001282677.1:c.2613-1_2613insTAGT (PEX1)	NP_001269606.1:n.2613-1_2613insTAGT
NM_001282678.1:c.2160-1_2160insTAGT (PEX1)	NP_001269607.1:n.2160-1_2160insTAGT
XM_005250433.3:c.1035-1_1035insTAGT (PEX1)	XP_005250490.1:n.1035-1_1035insTAGT
XR_242246.3:n.2880-1_2880insTAGT (PEX1)
XM_017012319.2:c.1035-1_1035insTAGT (PEX1)	XP_016867808.1:n.1035-1_1035insTAGT
XR_001744808.2:n.1811-1_1811insTAGT (PEX1)
XR_001744843.2:n.5598_5599insACTA (GATAD1)
XR_242246.5:n.2831-1_2831insTAGT (PEX1)
XR_927494.3:n.4449_4450insACTA (GATAD1)
XR_927503.3:n.4380_4381insACTA (GATAD1)
NM_000466.3:c.2784-1_2784insTAGT (PEX1) MANE Select	NP_000457.1:n.2784-1_2784insTAGT
NM_001282677.2:c.2613-1_2613insTAGT (PEX1)	NP_001269606.1:n.2613-1_2613insTAGT
NM_001282678.2:c.2160-1_2160insTAGT (PEX1)	NP_001269607.1:n.2160-1_2160insTAGT