Canonical Allele Identifier: CA843846462

Gene: PEX1

Linked Data

• dbSNP Id: rs1259664106
• MyVariant Identifiers: chr7:g.92124106_92124115del (hg19) ; chr7:g.92494792_92494801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494803_92494812del , CM000669.2:g.92494803_92494812del	GRCh38
NC_000007.13:g.92124117_92124126del , CM000669.1:g.92124117_92124126del	GRCh37
NC_000007.12:g.91962053_91962062del	NCBI36
NG_008341.1:g.38731_38740del
NG_008341.2:g.38731_38740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-172_2784-163del MANE Select	ENSP00000248633.4:n.2784-172_2784-163del
ENST00000248633.8:c.2784-172_2784-163del	ENSP00000248633.4:n.2784-172_2784-163del
ENST00000428214.5:c.2613-172_2613-163del	ENSP00000394413.1:n.2613-172_2613-163del
ENST00000438045.5:c.1818-172_1818-163del	ENSP00000410438.1:n.1818-172_1818-163del
ENST00000484913.5:n.2823-172_2823-163del
ENST00000496420.5:n.2676-172_2676-163del
NM_000466.2:c.2784-172_2784-163del	NP_000457.1:n.2784-172_2784-163del
NM_001282677.1:c.2613-172_2613-163del	NP_001269606.1:n.2613-172_2613-163del
NM_001282678.1:c.2160-172_2160-163del	NP_001269607.1:n.2160-172_2160-163del
XM_005250433.3:c.1035-172_1035-163del	XP_005250490.1:n.1035-172_1035-163del
XR_242246.3:n.2880-172_2880-163del
XM_017012319.2:c.1035-172_1035-163del	XP_016867808.1:n.1035-172_1035-163del
XR_001744808.2:n.1811-172_1811-163del
XR_242246.5:n.2831-172_2831-163del
NM_000466.3:c.2784-172_2784-163del MANE Select	NP_000457.1:n.2784-172_2784-163del
NM_001282677.2:c.2613-172_2613-163del	NP_001269606.1:n.2613-172_2613-163del
NM_001282678.2:c.2160-172_2160-163del	NP_001269607.1:n.2160-172_2160-163del