Canonical Allele Identifier: CA843848457

Gene: PEX1

Linked Data

• dbSNP Id: rs1206246211
• gnomAD v3: 7-92499544-AGAG-A
• gnomAD v4: 7-92499544-AGAG-A
• MyVariant Identifiers: chr7:g.92128859_92128861del (hg19) ; chr7:g.92499545_92499547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499551_92499553del , CM000669.2:g.92499551_92499553del	GRCh38
NC_000007.13:g.92128865_92128867del , CM000669.1:g.92128865_92128867del	GRCh37
NC_000007.12:g.91966801_91966803del	NCBI36
NG_008341.1:g.33985_33987del
NG_008341.2:g.33985_33987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+157_2718+159del MANE Select	ENSP00000248633.4:n.2718+157_2718+159del
ENST00000248633.8:c.2718+157_2718+159del	ENSP00000248633.4:n.2718+157_2718+159del
ENST00000428214.5:c.2547+157_2547+159del	ENSP00000394413.1:n.2547+157_2547+159del
ENST00000438045.5:c.1752+157_1752+159del	ENSP00000410438.1:n.1752+157_1752+159del
ENST00000484913.5:n.2757+157_2757+159del
ENST00000496420.5:n.2610+157_2610+159del
NM_000466.2:c.2718+157_2718+159del	NP_000457.1:n.2718+157_2718+159del
NM_001282677.1:c.2547+157_2547+159del	NP_001269606.1:n.2547+157_2547+159del
NM_001282678.1:c.2094+157_2094+159del	NP_001269607.1:n.2094+157_2094+159del
XM_005250433.3:c.969+157_969+159del	XP_005250490.1:n.969+157_969+159del
XR_242246.3:n.2814+157_2814+159del
XM_017012319.2:c.969+157_969+159del	XP_016867808.1:n.969+157_969+159del
XR_001744808.2:n.1745+157_1745+159del
XR_242246.5:n.2765+157_2765+159del
NM_000466.3:c.2718+157_2718+159del MANE Select	NP_000457.1:n.2718+157_2718+159del
NM_001282677.2:c.2547+157_2547+159del	NP_001269606.1:n.2547+157_2547+159del
NM_001282678.2:c.2094+157_2094+159del	NP_001269607.1:n.2094+157_2094+159del