Canonical Allele Identifier: CA843856885

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1324877
• ClinVar RCV Id: RCV001782597 ; RCV003225979 ; RCV003475090 ; RCV003759075
• dbSNP Id: rs1403870448
• gnomAD v3: 7-92517415-TG-T
• gnomAD v4: 7-92517415-TG-T
• MyVariant Identifiers: chr7:g.92146730del (hg19) ; chr7:g.92517416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517416del , CM000669.2:g.92517416del	GRCh38
NC_000007.13:g.92146730del , CM000669.1:g.92146730del	GRCh37
NC_000007.12:g.91984666del	NCBI36
NG_008341.1:g.16116del
NG_008341.2:g.16116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1099del MANE Select	ENSP00000248633.4:p.Gln367LysfsTer20
ENST00000248633.8:c.1099del	ENSP00000248633.4:p.Gln367LysfsTer20
ENST00000428214.5:c.1099del	ENSP00000394413.1:p.Gln367LysfsTer20
ENST00000438045.5:c.274-3449del	ENSP00000410438.1:n.274-3449del
ENST00000484913.5:n.1138del
NM_000466.2:c.1099del	NP_000457.1:p.Gln367LysfsTer20
NM_001282677.1:c.1099del	NP_001269606.1:p.Gln367LysfsTer20
NM_001282678.1:c.475del	NP_001269607.1:p.Gln159LysfsTer20
XR_242246.3:n.1195del
XM_017012319.2:c.-568del	XP_016867808.1:n.-568del
XR_001744808.2:n.209del
XR_242246.5:n.1146del
NM_000466.3:c.1099del MANE Select	NP_000457.1:p.Gln367LysfsTer20
NM_001282677.2:c.1099del	NP_001269606.1:p.Gln367LysfsTer20
NM_001282678.2:c.475del	NP_001269607.1:p.Gln159LysfsTer20