Canonical Allele Identifier: CA576303479

Gene: PEX1

Linked Data

• dbSNP Id: rs1283680572
• gnomAD v2: 7-92124058-CTTT-C
• gnomAD v3: 7-92494744-CTTT-C
• gnomAD v4: 7-92494744-CTTT-C
• MyVariant Identifiers: chr7:g.92124059_92124061del (hg19) ; chr7:g.92494745_92494747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494746_92494748del , CM000669.2:g.92494746_92494748del	GRCh38
NC_000007.13:g.92124060_92124062del , CM000669.1:g.92124060_92124062del	GRCh37
NC_000007.12:g.91961996_91961998del	NCBI36
NG_008341.1:g.38785_38787del
NG_008341.2:g.38785_38787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-118_2784-116del MANE Select	ENSP00000248633.4:n.2784-118_2784-116del
ENST00000248633.8:c.2784-118_2784-116del	ENSP00000248633.4:n.2784-118_2784-116del
ENST00000428214.5:c.2613-118_2613-116del	ENSP00000394413.1:n.2613-118_2613-116del
ENST00000438045.5:c.1818-118_1818-116del	ENSP00000410438.1:n.1818-118_1818-116del
ENST00000484913.5:n.2823-118_2823-116del
ENST00000496420.5:n.2676-118_2676-116del
NM_000466.2:c.2784-118_2784-116del	NP_000457.1:n.2784-118_2784-116del
NM_001282677.1:c.2613-118_2613-116del	NP_001269606.1:n.2613-118_2613-116del
NM_001282678.1:c.2160-118_2160-116del	NP_001269607.1:n.2160-118_2160-116del
XM_005250433.3:c.1035-118_1035-116del	XP_005250490.1:n.1035-118_1035-116del
XR_242246.3:n.2880-118_2880-116del
XM_017012319.2:c.1035-118_1035-116del	XP_016867808.1:n.1035-118_1035-116del
XR_001744808.2:n.1811-118_1811-116del
XR_242246.5:n.2831-118_2831-116del
NM_000466.3:c.2784-118_2784-116del MANE Select	NP_000457.1:n.2784-118_2784-116del
NM_001282677.2:c.2613-118_2613-116del	NP_001269606.1:n.2613-118_2613-116del
NM_001282678.2:c.2160-118_2160-116del	NP_001269607.1:n.2160-118_2160-116del