Canonical Allele Identifier: CA658823118

Gene: PEX1

Linked Data

• ClinVar Variation Id: 550603
• ClinVar RCV Id: RCV000665390
• dbSNP Id: rs1554371019
• MyVariant Identifiers: chr7:g.92501904_92501906dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501904_92501906dup , CM000669.2:g.92501904_92501906dup	GRCh38
NC_000007.13:g.92131218_92131220dup , CM000669.1:g.92131218_92131220dup	GRCh37
NC_000007.12:g.91969154_91969156dup	NCBI36
NG_008341.1:g.31626_31628dup
NG_008341.2:g.31626_31628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2400_2402dup MANE Select	ENSP00000248633.4:p.Ile801_Ser802insIle
ENST00000248633.8:c.2400_2402dup	ENSP00000248633.4:p.Ile801_Ser802insIle
ENST00000428214.5:c.2229_2231dup	ENSP00000394413.1:p.Ile744_Ser745insIle
ENST00000438045.5:c.1434_1436dup	ENSP00000410438.1:p.Ile479_Ser480insIle
ENST00000484913.5:n.2439_2441dup
ENST00000496092.1:n.198_200dup
ENST00000496420.5:n.2076_2078dup
NM_000466.2:c.2400_2402dup	NP_000457.1:p.Ile801_Ser802insIle
NM_001282677.1:c.2229_2231dup	NP_001269606.1:p.Ile744_Ser745insIle
NM_001282678.1:c.1776_1778dup	NP_001269607.1:p.Ile593_Ser594insIle
XM_005250433.3:c.651_653dup	XP_005250490.1:p.Ile218_Ser219insIle
XR_242246.3:n.2496_2498dup
XM_017012319.2:c.651_653dup	XP_016867808.1:p.Ile218_Ser219insIle
XR_001744808.2:n.1427_1429dup
XR_242246.5:n.2447_2449dup
NM_000466.3:c.2400_2402dup MANE Select	NP_000457.1:p.Ile801_Ser802insIle
NM_001282677.2:c.2229_2231dup	NP_001269606.1:p.Ile744_Ser745insIle
NM_001282678.2:c.1776_1778dup	NP_001269607.1:p.Ile593_Ser594insIle