Canonical Allele Identifier: CA2776945597

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491610_92491611insCAG , CM000669.2:g.92491610_92491611insCAG	GRCh38
NC_000007.13:g.92120924_92120925insCAG , CM000669.1:g.92120924_92120925insCAG	GRCh37
NC_000007.12:g.91958860_91958861insCAG	NCBI36
NG_008341.1:g.41921_41922insCTG
NG_008341.2:g.41921_41922insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-109_3208-108insCTG (PEX1) MANE Select	ENSP00000248633.4:n.3208-109_3208-108insCTG
ENST00000248633.8:c.3208-109_3208-108insCTG (PEX1)	ENSP00000248633.4:n.3208-109_3208-108insCTG
ENST00000428214.5:c.3037-109_3037-108insCTG (PEX1)	ENSP00000394413.1:n.3037-109_3037-108insCTG
ENST00000438045.5:c.2242-109_2242-108insCTG (PEX1)	ENSP00000410438.1:n.2242-109_2242-108insCTG
ENST00000484913.5:n.3247-109_3247-108insCTG (PEX1)
ENST00000496420.5:n.4263-109_4263-108insCTG (PEX1)
NM_000466.2:c.3208-109_3208-108insCTG (PEX1)	NP_000457.1:n.3208-109_3208-108insCTG
NM_001282677.1:c.3037-109_3037-108insCTG (PEX1)	NP_001269606.1:n.3037-109_3037-108insCTG
NM_001282678.1:c.2584-109_2584-108insCTG (PEX1)	NP_001269607.1:n.2584-109_2584-108insCTG
XM_005250433.3:c.1459-109_1459-108insCTG (PEX1)	XP_005250490.1:n.1459-109_1459-108insCTG
XR_242246.3:n.3304-109_3304-108insCTG (PEX1)
XM_017012319.2:c.1459-109_1459-108insCTG (PEX1)	XP_016867808.1:n.1459-109_1459-108insCTG
XR_001744808.2:n.2235-109_2235-108insCTG (PEX1)
XR_001744842.2:n.2648_2649insCAG (GATAD1)
XR_001744843.2:n.2579_2580insCAG (GATAD1)
XR_002956472.1:n.2705_2706insCAG (GATAD1)
XR_002956473.1:n.2736_2737insCAG (GATAD1)
XR_002956474.1:n.2653_2654insCAG (GATAD1)
XR_242246.5:n.3255-109_3255-108insCTG (PEX1)
XR_927494.3:n.1430_1431insCAG (GATAD1)
XR_927500.3:n.1427_1428insCAG (GATAD1)
XR_927503.3:n.1361_1362insCAG (GATAD1)
NM_000466.3:c.3208-109_3208-108insCTG (PEX1) MANE Select	NP_000457.1:n.3208-109_3208-108insCTG
NM_001282677.2:c.3037-109_3037-108insCTG (PEX1)	NP_001269606.1:n.3037-109_3037-108insCTG
NM_001282678.2:c.2584-109_2584-108insCTG (PEX1)	NP_001269607.1:n.2584-109_2584-108insCTG