Canonical Allele Identifier: CA2776945365

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489498_92489517del , CM000669.2:g.92489498_92489517del	GRCh38
NC_000007.13:g.92118812_92118831del , CM000669.1:g.92118812_92118831del	GRCh37
NC_000007.12:g.91956748_91956767del	NCBI36
NG_008341.1:g.44015_44034del
NG_008341.2:g.44015_44034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-94_3637-75del (PEX1) MANE Select	ENSP00000248633.4:n.3637-94_3637-75del
ENST00000248633.8:c.3637-94_3637-75del (PEX1)	ENSP00000248633.4:n.3637-94_3637-75del
ENST00000428214.5:c.3466-94_3466-75del (PEX1)	ENSP00000394413.1:n.3466-94_3466-75del
ENST00000438045.5:c.2671-94_2671-75del (PEX1)	ENSP00000410438.1:n.2671-94_2671-75del
ENST00000469417.1:n.534-94_534-75del (PEX1)
ENST00000477342.1:n.278_297del (PEX1)
ENST00000484913.5:n.3676-94_3676-75del (PEX1)
ENST00000496420.5:n.4687-94_4687-75del (PEX1)
NM_000466.2:c.3637-94_3637-75del (PEX1)	NP_000457.1:n.3637-94_3637-75del
NM_001282677.1:c.3466-94_3466-75del (PEX1)	NP_001269606.1:n.3466-94_3466-75del
NM_001282678.1:c.3013-94_3013-75del (PEX1)	NP_001269607.1:n.3013-94_3013-75del
XM_005250433.3:c.1888-94_1888-75del (PEX1)	XP_005250490.1:n.1888-94_1888-75del
XR_242246.3:n.3728-94_3728-75del (PEX1)
XR_927494.1:n.1036-1745_1036-1726del (GATAD1)
XR_927495.1:n.1036-588_1036-569del (GATAD1)
XR_927496.1:n.1041-1745_1041-1726del (GATAD1)
XR_927497.1:n.1036-588_1036-569del (GATAD1)
XR_927498.1:n.1124-1745_1124-1726del (GATAD1)
XR_927500.1:n.1033-1745_1033-1726del (GATAD1)
XR_927502.1:n.1033-588_1033-569del (GATAD1)
XR_927503.1:n.967-1745_967-1726del (GATAD1)
XM_017012319.2:c.1888-94_1888-75del (PEX1)	XP_016867808.1:n.1888-94_1888-75del
XR_001744808.2:n.2659-94_2659-75del (PEX1)
XR_001744842.2:n.2281-1745_2281-1726del (GATAD1)
XR_001744843.2:n.2212-1745_2212-1726del (GATAD1)
XR_002956472.1:n.2281-588_2281-569del (GATAD1)
XR_002956473.1:n.2369-1745_2369-1726del (GATAD1)
XR_002956474.1:n.2286-1745_2286-1726del (GATAD1)
XR_242246.5:n.3679-94_3679-75del (PEX1)
XR_927494.3:n.1063-1745_1063-1726del (GATAD1)
XR_927500.3:n.1060-1745_1060-1726del (GATAD1)
XR_927503.3:n.994-1745_994-1726del (GATAD1)
NM_000466.3:c.3637-94_3637-75del (PEX1) MANE Select	NP_000457.1:n.3637-94_3637-75del
NM_001282677.2:c.3466-94_3466-75del (PEX1)	NP_001269606.1:n.3466-94_3466-75del
NM_001282678.2:c.3013-94_3013-75del (PEX1)	NP_001269607.1:n.3013-94_3013-75del