Canonical Allele Identifier: CA2683718544

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499920-A-ACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499920_92499921insCGGC , CM000669.2:g.92499920_92499921insCGGC	GRCh38
NC_000007.13:g.92129234_92129235insCGGC , CM000669.1:g.92129234_92129235insCGGC	GRCh37
NC_000007.12:g.91967170_91967171insCGGC	NCBI36
NG_008341.1:g.33611_33612insGCCG
NG_008341.2:g.33611_33612insGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-83_2584-82insGCCG MANE Select	ENSP00000248633.4:n.2584-83_2584-82insGCCG
ENST00000248633.8:c.2584-83_2584-82insGCCG	ENSP00000248633.4:n.2584-83_2584-82insGCCG
ENST00000428214.5:c.2413-83_2413-82insGCCG	ENSP00000394413.1:n.2413-83_2413-82insGCCG
ENST00000438045.5:c.1618-83_1618-82insGCCG	ENSP00000410438.1:n.1618-83_1618-82insGCCG
ENST00000484913.5:n.2623-83_2623-82insGCCG
ENST00000496420.5:n.2476-83_2476-82insGCCG
NM_000466.2:c.2584-83_2584-82insGCCG	NP_000457.1:n.2584-83_2584-82insGCCG
NM_001282677.1:c.2413-83_2413-82insGCCG	NP_001269606.1:n.2413-83_2413-82insGCCG
NM_001282678.1:c.1960-83_1960-82insGCCG	NP_001269607.1:n.1960-83_1960-82insGCCG
XM_005250433.3:c.835-83_835-82insGCCG	XP_005250490.1:n.835-83_835-82insGCCG
XR_242246.3:n.2680-83_2680-82insGCCG
XM_017012319.2:c.835-83_835-82insGCCG	XP_016867808.1:n.835-83_835-82insGCCG
XR_001744808.2:n.1611-83_1611-82insGCCG
XR_242246.5:n.2631-83_2631-82insGCCG
NM_000466.3:c.2584-83_2584-82insGCCG MANE Select	NP_000457.1:n.2584-83_2584-82insGCCG
NM_001282677.2:c.2413-83_2413-82insGCCG	NP_001269606.1:n.2413-83_2413-82insGCCG
NM_001282678.2:c.1960-83_1960-82insGCCG	NP_001269607.1:n.1960-83_1960-82insGCCG