Canonical Allele Identifier: CA1725931307

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791542752

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494478_92494483del , CM000669.2:g.92494478_92494483del	GRCh38
NC_000007.13:g.92123792_92123797del , CM000669.1:g.92123792_92123797del	GRCh37
NC_000007.12:g.91961728_91961733del	NCBI36
NG_008341.1:g.39053_39058del
NG_008341.2:g.39053_39058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+8_2926+13del (PEX1) MANE Select	ENSP00000248633.4:n.2926+8_2926+13del
ENST00000248633.8:c.2926+8_2926+13del (PEX1)	ENSP00000248633.4:n.2926+8_2926+13del
ENST00000428214.5:c.2755+8_2755+13del (PEX1)	ENSP00000394413.1:n.2755+8_2755+13del
ENST00000438045.5:c.1960+8_1960+13del (PEX1)	ENSP00000410438.1:n.1960+8_1960+13del
ENST00000484913.5:n.2965+8_2965+13del (PEX1)
ENST00000496420.5:n.2818+8_2818+13del (PEX1)
NM_000466.2:c.2926+8_2926+13del (PEX1)	NP_000457.1:n.2926+8_2926+13del
NM_001282677.1:c.2755+8_2755+13del (PEX1)	NP_001269606.1:n.2755+8_2755+13del
NM_001282678.1:c.2302+8_2302+13del (PEX1)	NP_001269607.1:n.2302+8_2302+13del
XM_005250433.3:c.1177+8_1177+13del (PEX1)	XP_005250490.1:n.1177+8_1177+13del
XR_242246.3:n.3022+8_3022+13del (PEX1)
XM_017012319.2:c.1177+8_1177+13del (PEX1)	XP_016867808.1:n.1177+8_1177+13del
XR_001744808.2:n.1953+8_1953+13del (PEX1)
XR_001744843.2:n.5447_5452del (GATAD1)
XR_242246.5:n.2973+8_2973+13del (PEX1)
XR_927494.3:n.4298_4303del (GATAD1)
XR_927503.3:n.4229_4234del (GATAD1)
NM_000466.3:c.2926+8_2926+13del (PEX1) MANE Select	NP_000457.1:n.2926+8_2926+13del
NM_001282677.2:c.2755+8_2755+13del (PEX1)	NP_001269606.1:n.2755+8_2755+13del
NM_001282678.2:c.2302+8_2302+13del (PEX1)	NP_001269607.1:n.2302+8_2302+13del