Canonical Allele Identifier: CA2683718559

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499932-C-CCACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499932_92499933insCACCG , CM000669.2:g.92499932_92499933insCACCG	GRCh38
NC_000007.13:g.92129246_92129247insCACCG , CM000669.1:g.92129246_92129247insCACCG	GRCh37
NC_000007.12:g.91967182_91967183insCACCG	NCBI36
NG_008341.1:g.33599_33600insCGGTG
NG_008341.2:g.33599_33600insCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-95_2584-94insCGGTG MANE Select	ENSP00000248633.4:n.2584-95_2584-94insCGGTG
ENST00000248633.8:c.2584-95_2584-94insCGGTG	ENSP00000248633.4:n.2584-95_2584-94insCGGTG
ENST00000428214.5:c.2413-95_2413-94insCGGTG	ENSP00000394413.1:n.2413-95_2413-94insCGGTG
ENST00000438045.5:c.1618-95_1618-94insCGGTG	ENSP00000410438.1:n.1618-95_1618-94insCGGTG
ENST00000484913.5:n.2623-95_2623-94insCGGTG
ENST00000496420.5:n.2476-95_2476-94insCGGTG
NM_000466.2:c.2584-95_2584-94insCGGTG	NP_000457.1:n.2584-95_2584-94insCGGTG
NM_001282677.1:c.2413-95_2413-94insCGGTG	NP_001269606.1:n.2413-95_2413-94insCGGTG
NM_001282678.1:c.1960-95_1960-94insCGGTG	NP_001269607.1:n.1960-95_1960-94insCGGTG
XM_005250433.3:c.835-95_835-94insCGGTG	XP_005250490.1:n.835-95_835-94insCGGTG
XR_242246.3:n.2680-95_2680-94insCGGTG
XM_017012319.2:c.835-95_835-94insCGGTG	XP_016867808.1:n.835-95_835-94insCGGTG
XR_001744808.2:n.1611-95_1611-94insCGGTG
XR_242246.5:n.2631-95_2631-94insCGGTG
NM_000466.3:c.2584-95_2584-94insCGGTG MANE Select	NP_000457.1:n.2584-95_2584-94insCGGTG
NM_001282677.2:c.2413-95_2413-94insCGGTG	NP_001269606.1:n.2413-95_2413-94insCGGTG
NM_001282678.2:c.1960-95_1960-94insCGGTG	NP_001269607.1:n.1960-95_1960-94insCGGTG