Canonical Allele Identifier: CA2776945401

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489534_92489540del , CM000669.2:g.92489534_92489540del	GRCh38
NC_000007.13:g.92118848_92118854del , CM000669.1:g.92118848_92118854del	GRCh37
NC_000007.12:g.91956784_91956790del	NCBI36
NG_008341.1:g.43993_43999del
NG_008341.2:g.43993_43999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-116_3637-110del (PEX1) MANE Select	ENSP00000248633.4:n.3637-116_3637-110del
ENST00000248633.8:c.3637-116_3637-110del (PEX1)	ENSP00000248633.4:n.3637-116_3637-110del
ENST00000428214.5:c.3466-116_3466-110del (PEX1)	ENSP00000394413.1:n.3466-116_3466-110del
ENST00000438045.5:c.2671-116_2671-110del (PEX1)	ENSP00000410438.1:n.2671-116_2671-110del
ENST00000469417.1:n.534-116_534-110del (PEX1)
ENST00000477342.1:n.256_262del (PEX1)
ENST00000484913.5:n.3676-116_3676-110del (PEX1)
ENST00000496420.5:n.4687-116_4687-110del (PEX1)
NM_000466.2:c.3637-116_3637-110del (PEX1)	NP_000457.1:n.3637-116_3637-110del
NM_001282677.1:c.3466-116_3466-110del (PEX1)	NP_001269606.1:n.3466-116_3466-110del
NM_001282678.1:c.3013-116_3013-110del (PEX1)	NP_001269607.1:n.3013-116_3013-110del
XM_005250433.3:c.1888-116_1888-110del (PEX1)	XP_005250490.1:n.1888-116_1888-110del
XR_242246.3:n.3728-116_3728-110del (PEX1)
XR_927494.1:n.1036-1709_1036-1703del (GATAD1)
XR_927495.1:n.1036-552_1036-546del (GATAD1)
XR_927496.1:n.1041-1709_1041-1703del (GATAD1)
XR_927497.1:n.1036-552_1036-546del (GATAD1)
XR_927498.1:n.1124-1709_1124-1703del (GATAD1)
XR_927500.1:n.1033-1709_1033-1703del (GATAD1)
XR_927502.1:n.1033-552_1033-546del (GATAD1)
XR_927503.1:n.967-1709_967-1703del (GATAD1)
XM_017012319.2:c.1888-116_1888-110del (PEX1)	XP_016867808.1:n.1888-116_1888-110del
XR_001744808.2:n.2659-116_2659-110del (PEX1)
XR_001744842.2:n.2281-1709_2281-1703del (GATAD1)
XR_001744843.2:n.2212-1709_2212-1703del (GATAD1)
XR_002956472.1:n.2281-552_2281-546del (GATAD1)
XR_002956473.1:n.2369-1709_2369-1703del (GATAD1)
XR_002956474.1:n.2286-1709_2286-1703del (GATAD1)
XR_242246.5:n.3679-116_3679-110del (PEX1)
XR_927494.3:n.1063-1709_1063-1703del (GATAD1)
XR_927500.3:n.1060-1709_1060-1703del (GATAD1)
XR_927503.3:n.994-1709_994-1703del (GATAD1)
NM_000466.3:c.3637-116_3637-110del (PEX1) MANE Select	NP_000457.1:n.3637-116_3637-110del
NM_001282677.2:c.3466-116_3466-110del (PEX1)	NP_001269606.1:n.3466-116_3466-110del
NM_001282678.2:c.3013-116_3013-110del (PEX1)	NP_001269607.1:n.3013-116_3013-110del