Canonical Allele Identifier: CA576305296

Gene: PEX1

Linked Data

• dbSNP Id: rs1428761037
• gnomAD v2: 7-92134250-CA-C
• gnomAD v4: 7-92504936-CA-C
• MyVariant Identifiers: chr7:g.92134251del (hg19) ; chr7:g.92504937del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504937del , CM000669.2:g.92504937del	GRCh38
NC_000007.13:g.92134251del , CM000669.1:g.92134251del	GRCh37
NC_000007.12:g.91972187del	NCBI36
NG_008341.1:g.28595del
NG_008341.2:g.28595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-35del MANE Select	ENSP00000248633.4:n.1901-35del
ENST00000248633.8:c.1901-35del	ENSP00000248633.4:n.1901-35del
ENST00000422866.1:c.719-35del
ENST00000428214.5:c.1900+1311del	ENSP00000394413.1:n.1900+1311del
ENST00000438045.5:c.935-35del	ENSP00000410438.1:n.935-35del
ENST00000484913.5:n.1940-35del
ENST00000496420.5:n.1577-35del
NM_000466.2:c.1901-35del	NP_000457.1:n.1901-35del
NM_001282677.1:c.1900+1311del	NP_001269606.1:n.1900+1311del
NM_001282678.1:c.1277-35del	NP_001269607.1:n.1277-35del
XM_005250433.3:c.152-35del	XP_005250490.1:n.152-35del
XR_242246.3:n.1997-35del
XM_017012319.2:c.152-35del	XP_016867808.1:n.152-35del
XR_001744808.2:n.928-35del
XR_242246.5:n.1948-35del
NM_000466.3:c.1901-35del MANE Select	NP_000457.1:n.1901-35del
NM_001282677.2:c.1900+1311del	NP_001269606.1:n.1900+1311del
NM_001282678.2:c.1277-35del	NP_001269607.1:n.1277-35del