Canonical Allele Identifier: CA2776945373

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489500_92489501insAC , CM000669.2:g.92489500_92489501insAC	GRCh38
NC_000007.13:g.92118814_92118815insAC , CM000669.1:g.92118814_92118815insAC	GRCh37
NC_000007.12:g.91956750_91956751insAC	NCBI36
NG_008341.1:g.44031_44032insGT
NG_008341.2:g.44031_44032insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-78_3637-77insGT (PEX1) MANE Select	ENSP00000248633.4:n.3637-78_3637-77insGT
ENST00000248633.8:c.3637-78_3637-77insGT (PEX1)	ENSP00000248633.4:n.3637-78_3637-77insGT
ENST00000428214.5:c.3466-78_3466-77insGT (PEX1)	ENSP00000394413.1:n.3466-78_3466-77insGT
ENST00000438045.5:c.2671-78_2671-77insGT (PEX1)	ENSP00000410438.1:n.2671-78_2671-77insGT
ENST00000469417.1:n.534-78_534-77insGT (PEX1)
ENST00000477342.1:n.294_295insGT (PEX1)
ENST00000484913.5:n.3676-78_3676-77insGT (PEX1)
ENST00000496420.5:n.4687-78_4687-77insGT (PEX1)
NM_000466.2:c.3637-78_3637-77insGT (PEX1)	NP_000457.1:n.3637-78_3637-77insGT
NM_001282677.1:c.3466-78_3466-77insGT (PEX1)	NP_001269606.1:n.3466-78_3466-77insGT
NM_001282678.1:c.3013-78_3013-77insGT (PEX1)	NP_001269607.1:n.3013-78_3013-77insGT
XM_005250433.3:c.1888-78_1888-77insGT (PEX1)	XP_005250490.1:n.1888-78_1888-77insGT
XR_242246.3:n.3728-78_3728-77insGT (PEX1)
XR_927494.1:n.1036-1743_1036-1742insAC (GATAD1)
XR_927495.1:n.1036-586_1036-585insAC (GATAD1)
XR_927496.1:n.1041-1743_1041-1742insAC (GATAD1)
XR_927497.1:n.1036-586_1036-585insAC (GATAD1)
XR_927498.1:n.1124-1743_1124-1742insAC (GATAD1)
XR_927500.1:n.1033-1743_1033-1742insAC (GATAD1)
XR_927502.1:n.1033-586_1033-585insAC (GATAD1)
XR_927503.1:n.967-1743_967-1742insAC (GATAD1)
XM_017012319.2:c.1888-78_1888-77insGT (PEX1)	XP_016867808.1:n.1888-78_1888-77insGT
XR_001744808.2:n.2659-78_2659-77insGT (PEX1)
XR_001744842.2:n.2281-1743_2281-1742insAC (GATAD1)
XR_001744843.2:n.2212-1743_2212-1742insAC (GATAD1)
XR_002956472.1:n.2281-586_2281-585insAC (GATAD1)
XR_002956473.1:n.2369-1743_2369-1742insAC (GATAD1)
XR_002956474.1:n.2286-1743_2286-1742insAC (GATAD1)
XR_242246.5:n.3679-78_3679-77insGT (PEX1)
XR_927494.3:n.1063-1743_1063-1742insAC (GATAD1)
XR_927500.3:n.1060-1743_1060-1742insAC (GATAD1)
XR_927503.3:n.994-1743_994-1742insAC (GATAD1)
NM_000466.3:c.3637-78_3637-77insGT (PEX1) MANE Select	NP_000457.1:n.3637-78_3637-77insGT
NM_001282677.2:c.3466-78_3466-77insGT (PEX1)	NP_001269606.1:n.3466-78_3466-77insGT
NM_001282678.2:c.3013-78_3013-77insGT (PEX1)	NP_001269607.1:n.3013-78_3013-77insGT