Canonical Allele Identifier: CA2683717157

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491585-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491586_92491587insGT , CM000669.2:g.92491586_92491587insGT	GRCh38
NC_000007.13:g.92120900_92120901insGT , CM000669.1:g.92120900_92120901insGT	GRCh37
NC_000007.12:g.91958836_91958837insGT	NCBI36
NG_008341.1:g.41946_41947insCA
NG_008341.2:g.41946_41947insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-84_3208-83insCA (PEX1) MANE Select	ENSP00000248633.4:n.3208-84_3208-83insCA
ENST00000248633.8:c.3208-84_3208-83insCA (PEX1)	ENSP00000248633.4:n.3208-84_3208-83insCA
ENST00000428214.5:c.3037-84_3037-83insCA (PEX1)	ENSP00000394413.1:n.3037-84_3037-83insCA
ENST00000438045.5:c.2242-84_2242-83insCA (PEX1)	ENSP00000410438.1:n.2242-84_2242-83insCA
ENST00000484913.5:n.3247-84_3247-83insCA (PEX1)
ENST00000496420.5:n.4263-84_4263-83insCA (PEX1)
NM_000466.2:c.3208-84_3208-83insCA (PEX1)	NP_000457.1:n.3208-84_3208-83insCA
NM_001282677.1:c.3037-84_3037-83insCA (PEX1)	NP_001269606.1:n.3037-84_3037-83insCA
NM_001282678.1:c.2584-84_2584-83insCA (PEX1)	NP_001269607.1:n.2584-84_2584-83insCA
XM_005250433.3:c.1459-84_1459-83insCA (PEX1)	XP_005250490.1:n.1459-84_1459-83insCA
XR_242246.3:n.3304-84_3304-83insCA (PEX1)
XM_017012319.2:c.1459-84_1459-83insCA (PEX1)	XP_016867808.1:n.1459-84_1459-83insCA
XR_001744808.2:n.2235-84_2235-83insCA (PEX1)
XR_001744842.2:n.2624_2625insGT (GATAD1)
XR_001744843.2:n.2555_2556insGT (GATAD1)
XR_002956472.1:n.2681_2682insGT (GATAD1)
XR_002956473.1:n.2712_2713insGT (GATAD1)
XR_002956474.1:n.2629_2630insGT (GATAD1)
XR_242246.5:n.3255-84_3255-83insCA (PEX1)
XR_927494.3:n.1406_1407insGT (GATAD1)
XR_927500.3:n.1403_1404insGT (GATAD1)
XR_927503.3:n.1337_1338insGT (GATAD1)
NM_000466.3:c.3208-84_3208-83insCA (PEX1) MANE Select	NP_000457.1:n.3208-84_3208-83insCA
NM_001282677.2:c.3037-84_3037-83insCA (PEX1)	NP_001269606.1:n.3037-84_3037-83insCA
NM_001282678.2:c.2584-84_2584-83insCA (PEX1)	NP_001269607.1:n.2584-84_2584-83insCA