Canonical Allele Identifier: CA2683718289

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499614-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499617del , CM000669.2:g.92499617del	GRCh38
NC_000007.13:g.92128931del , CM000669.1:g.92128931del	GRCh37
NC_000007.12:g.91966867del	NCBI36
NG_008341.1:g.33917del
NG_008341.2:g.33917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+89del MANE Select	ENSP00000248633.4:n.2718+89del
ENST00000248633.8:c.2718+89del	ENSP00000248633.4:n.2718+89del
ENST00000428214.5:c.2547+89del	ENSP00000394413.1:n.2547+89del
ENST00000438045.5:c.1752+89del	ENSP00000410438.1:n.1752+89del
ENST00000484913.5:n.2757+89del
ENST00000496420.5:n.2610+89del
NM_000466.2:c.2718+89del	NP_000457.1:n.2718+89del
NM_001282677.1:c.2547+89del	NP_001269606.1:n.2547+89del
NM_001282678.1:c.2094+89del	NP_001269607.1:n.2094+89del
XM_005250433.3:c.969+89del	XP_005250490.1:n.969+89del
XR_242246.3:n.2814+89del
XM_017012319.2:c.969+89del	XP_016867808.1:n.969+89del
XR_001744808.2:n.1745+89del
XR_242246.5:n.2765+89del
NM_000466.3:c.2718+89del MANE Select	NP_000457.1:n.2718+89del
NM_001282677.2:c.2547+89del	NP_001269606.1:n.2547+89del
NM_001282678.2:c.2094+89del	NP_001269607.1:n.2094+89del