Canonical Allele Identifier: CA4341259

Gene: PEX1

Linked Data

• dbSNP Id: rs780110368
• ExAC: 7:92134243 TC / T
• gnomAD v2: 7-92134243-TC-T
• gnomAD v3: 7-92504929-TC-T
• gnomAD v4: 7-92504929-TC-T
• MyVariant Identifiers: chr7:g.92134244del (hg19) ; chr7:g.92504930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504930del , CM000669.2:g.92504930del	GRCh38
NC_000007.13:g.92134244del , CM000669.1:g.92134244del	GRCh37
NC_000007.12:g.91972180del	NCBI36
NG_008341.1:g.28602del
NG_008341.2:g.28602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-28del MANE Select	ENSP00000248633.4:n.1901-28del
ENST00000248633.8:c.1901-28del	ENSP00000248633.4:n.1901-28del
ENST00000422866.1:c.719-28del
ENST00000428214.5:c.1900+1318del	ENSP00000394413.1:n.1900+1318del
ENST00000438045.5:c.935-28del	ENSP00000410438.1:n.935-28del
ENST00000484913.5:n.1940-28del
ENST00000496420.5:n.1577-28del
NM_000466.2:c.1901-28del	NP_000457.1:n.1901-28del
NM_001282677.1:c.1900+1318del	NP_001269606.1:n.1900+1318del
NM_001282678.1:c.1277-28del	NP_001269607.1:n.1277-28del
XM_005250433.3:c.152-28del	XP_005250490.1:n.152-28del
XR_242246.3:n.1997-28del
XM_017012319.2:c.152-28del	XP_016867808.1:n.152-28del
XR_001744808.2:n.928-28del
XR_242246.5:n.1948-28del
NM_000466.3:c.1901-28del MANE Select	NP_000457.1:n.1901-28del
NM_001282677.2:c.1900+1318del	NP_001269606.1:n.1900+1318del
NM_001282678.2:c.1277-28del	NP_001269607.1:n.1277-28del