Canonical Allele Identifier: CA2683717976

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494478-AATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494483_92494485del , CM000669.2:g.92494483_92494485del	GRCh38
NC_000007.13:g.92123797_92123799del , CM000669.1:g.92123797_92123799del	GRCh37
NC_000007.12:g.91961733_91961735del	NCBI36
NG_008341.1:g.39051_39053del
NG_008341.2:g.39051_39053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+6_2926+8del (PEX1) MANE Select	ENSP00000248633.4:n.2926+6_2926+8del
ENST00000248633.8:c.2926+6_2926+8del (PEX1)	ENSP00000248633.4:n.2926+6_2926+8del
ENST00000428214.5:c.2755+6_2755+8del (PEX1)	ENSP00000394413.1:n.2755+6_2755+8del
ENST00000438045.5:c.1960+6_1960+8del (PEX1)	ENSP00000410438.1:n.1960+6_1960+8del
ENST00000484913.5:n.2965+6_2965+8del (PEX1)
ENST00000496420.5:n.2818+6_2818+8del (PEX1)
NM_000466.2:c.2926+6_2926+8del (PEX1)	NP_000457.1:n.2926+6_2926+8del
NM_001282677.1:c.2755+6_2755+8del (PEX1)	NP_001269606.1:n.2755+6_2755+8del
NM_001282678.1:c.2302+6_2302+8del (PEX1)	NP_001269607.1:n.2302+6_2302+8del
XM_005250433.3:c.1177+6_1177+8del (PEX1)	XP_005250490.1:n.1177+6_1177+8del
XR_242246.3:n.3022+6_3022+8del (PEX1)
XM_017012319.2:c.1177+6_1177+8del (PEX1)	XP_016867808.1:n.1177+6_1177+8del
XR_001744808.2:n.1953+6_1953+8del (PEX1)
XR_001744843.2:n.5452_5454del (GATAD1)
XR_242246.5:n.2973+6_2973+8del (PEX1)
XR_927494.3:n.4303_4305del (GATAD1)
XR_927503.3:n.4234_4236del (GATAD1)
NM_000466.3:c.2926+6_2926+8del (PEX1) MANE Select	NP_000457.1:n.2926+6_2926+8del
NM_001282677.2:c.2755+6_2755+8del (PEX1)	NP_001269606.1:n.2755+6_2755+8del
NM_001282678.2:c.2302+6_2302+8del (PEX1)	NP_001269607.1:n.2302+6_2302+8del