Canonical Allele Identifier: CA843846470

Gene: PEX1

Linked Data

• dbSNP Id: rs1333539231
• gnomAD v3: 7-92494800-AATAC-A
• gnomAD v4: 7-92494800-AATAC-A
• MyVariant Identifiers: chr7:g.92124115_92124118del (hg19) ; chr7:g.92494801_92494804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494804_92494807del , CM000669.2:g.92494804_92494807del	GRCh38
NC_000007.13:g.92124118_92124121del , CM000669.1:g.92124118_92124121del	GRCh37
NC_000007.12:g.91962054_91962057del	NCBI36
NG_008341.1:g.38728_38731del
NG_008341.2:g.38728_38731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-175_2784-172del MANE Select	ENSP00000248633.4:n.2784-175_2784-172del
ENST00000248633.8:c.2784-175_2784-172del	ENSP00000248633.4:n.2784-175_2784-172del
ENST00000428214.5:c.2613-175_2613-172del	ENSP00000394413.1:n.2613-175_2613-172del
ENST00000438045.5:c.1818-175_1818-172del	ENSP00000410438.1:n.1818-175_1818-172del
ENST00000484913.5:n.2823-175_2823-172del
ENST00000496420.5:n.2676-175_2676-172del
NM_000466.2:c.2784-175_2784-172del	NP_000457.1:n.2784-175_2784-172del
NM_001282677.1:c.2613-175_2613-172del	NP_001269606.1:n.2613-175_2613-172del
NM_001282678.1:c.2160-175_2160-172del	NP_001269607.1:n.2160-175_2160-172del
XM_005250433.3:c.1035-175_1035-172del	XP_005250490.1:n.1035-175_1035-172del
XR_242246.3:n.2880-175_2880-172del
XM_017012319.2:c.1035-175_1035-172del	XP_016867808.1:n.1035-175_1035-172del
XR_001744808.2:n.1811-175_1811-172del
XR_242246.5:n.2831-175_2831-172del
NM_000466.3:c.2784-175_2784-172del MANE Select	NP_000457.1:n.2784-175_2784-172del
NM_001282677.2:c.2613-175_2613-172del	NP_001269606.1:n.2613-175_2613-172del
NM_001282678.2:c.2160-175_2160-172del	NP_001269607.1:n.2160-175_2160-172del