Canonical Allele Identifier: CA2776945568

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491549_92491550insCAG , CM000669.2:g.92491549_92491550insCAG	GRCh38
NC_000007.13:g.92120863_92120864insCAG , CM000669.1:g.92120863_92120864insCAG	GRCh37
NC_000007.12:g.91958799_91958800insCAG	NCBI36
NG_008341.1:g.41982_41983insCTG
NG_008341.2:g.41982_41983insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-48_3208-47insCTG (PEX1) MANE Select	ENSP00000248633.4:n.3208-48_3208-47insCTG
ENST00000248633.8:c.3208-48_3208-47insCTG (PEX1)	ENSP00000248633.4:n.3208-48_3208-47insCTG
ENST00000428214.5:c.3037-48_3037-47insCTG (PEX1)	ENSP00000394413.1:n.3037-48_3037-47insCTG
ENST00000438045.5:c.2242-48_2242-47insCTG (PEX1)	ENSP00000410438.1:n.2242-48_2242-47insCTG
ENST00000484913.5:n.3247-48_3247-47insCTG (PEX1)
ENST00000496420.5:n.4263-48_4263-47insCTG (PEX1)
NM_000466.2:c.3208-48_3208-47insCTG (PEX1)	NP_000457.1:n.3208-48_3208-47insCTG
NM_001282677.1:c.3037-48_3037-47insCTG (PEX1)	NP_001269606.1:n.3037-48_3037-47insCTG
NM_001282678.1:c.2584-48_2584-47insCTG (PEX1)	NP_001269607.1:n.2584-48_2584-47insCTG
XM_005250433.3:c.1459-48_1459-47insCTG (PEX1)	XP_005250490.1:n.1459-48_1459-47insCTG
XR_242246.3:n.3304-48_3304-47insCTG (PEX1)
XM_017012319.2:c.1459-48_1459-47insCTG (PEX1)	XP_016867808.1:n.1459-48_1459-47insCTG
XR_001744808.2:n.2235-48_2235-47insCTG (PEX1)
XR_001744842.2:n.2587_2588insCAG (GATAD1)
XR_001744843.2:n.2518_2519insCAG (GATAD1)
XR_002956472.1:n.2644_2645insCAG (GATAD1)
XR_002956473.1:n.2675_2676insCAG (GATAD1)
XR_002956474.1:n.2592_2593insCAG (GATAD1)
XR_242246.5:n.3255-48_3255-47insCTG (PEX1)
XR_927494.3:n.1369_1370insCAG (GATAD1)
XR_927500.3:n.1366_1367insCAG (GATAD1)
XR_927503.3:n.1300_1301insCAG (GATAD1)
NM_000466.3:c.3208-48_3208-47insCTG (PEX1) MANE Select	NP_000457.1:n.3208-48_3208-47insCTG
NM_001282677.2:c.3037-48_3037-47insCTG (PEX1)	NP_001269606.1:n.3037-48_3037-47insCTG
NM_001282678.2:c.2584-48_2584-47insCTG (PEX1)	NP_001269607.1:n.2584-48_2584-47insCTG