Canonical Allele Identifier: CA2776945923

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494462_92494463insAGA , CM000669.2:g.92494462_92494463insAGA	GRCh38
NC_000007.13:g.92123776_92123777insAGA , CM000669.1:g.92123776_92123777insAGA	GRCh37
NC_000007.12:g.91961712_91961713insAGA	NCBI36
NG_008341.1:g.39069_39070insTCT
NG_008341.2:g.39069_39070insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+24_2926+25insTCT (PEX1) MANE Select	ENSP00000248633.4:n.2926+24_2926+25insTCT
ENST00000248633.8:c.2926+24_2926+25insTCT (PEX1)	ENSP00000248633.4:n.2926+24_2926+25insTCT
ENST00000428214.5:c.2755+24_2755+25insTCT (PEX1)	ENSP00000394413.1:n.2755+24_2755+25insTCT
ENST00000438045.5:c.1960+24_1960+25insTCT (PEX1)	ENSP00000410438.1:n.1960+24_1960+25insTCT
ENST00000484913.5:n.2965+24_2965+25insTCT (PEX1)
ENST00000496420.5:n.2818+24_2818+25insTCT (PEX1)
NM_000466.2:c.2926+24_2926+25insTCT (PEX1)	NP_000457.1:n.2926+24_2926+25insTCT
NM_001282677.1:c.2755+24_2755+25insTCT (PEX1)	NP_001269606.1:n.2755+24_2755+25insTCT
NM_001282678.1:c.2302+24_2302+25insTCT (PEX1)	NP_001269607.1:n.2302+24_2302+25insTCT
XM_005250433.3:c.1177+24_1177+25insTCT (PEX1)	XP_005250490.1:n.1177+24_1177+25insTCT
XR_242246.3:n.3022+24_3022+25insTCT (PEX1)
XM_017012319.2:c.1177+24_1177+25insTCT (PEX1)	XP_016867808.1:n.1177+24_1177+25insTCT
XR_001744808.2:n.1953+24_1953+25insTCT (PEX1)
XR_001744843.2:n.5431_5432insAGA (GATAD1)
XR_242246.5:n.2973+24_2973+25insTCT (PEX1)
XR_927494.3:n.4282_4283insAGA (GATAD1)
XR_927503.3:n.4213_4214insAGA (GATAD1)
NM_000466.3:c.2926+24_2926+25insTCT (PEX1) MANE Select	NP_000457.1:n.2926+24_2926+25insTCT
NM_001282677.2:c.2755+24_2755+25insTCT (PEX1)	NP_001269606.1:n.2755+24_2755+25insTCT
NM_001282678.2:c.2302+24_2302+25insTCT (PEX1)	NP_001269607.1:n.2302+24_2302+25insTCT