Canonical Allele Identifier: CA161955875

Gene: PEX1

Linked Data

• dbSNP Id: rs1017111983
• gnomAD v3: 7-92494740-ACTT-A
• gnomAD v4: 7-92494740-ACTT-A
• MyVariant Identifiers: chr7:g.92124055_92124057del (hg19) ; chr7:g.92494741_92494743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494744_92494746del , CM000669.2:g.92494744_92494746del	GRCh38
NC_000007.13:g.92124058_92124060del , CM000669.1:g.92124058_92124060del	GRCh37
NC_000007.12:g.91961994_91961996del	NCBI36
NG_008341.1:g.38789_38791del
NG_008341.2:g.38789_38791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-114_2784-112del MANE Select	ENSP00000248633.4:n.2784-114_2784-112del
ENST00000248633.8:c.2784-114_2784-112del	ENSP00000248633.4:n.2784-114_2784-112del
ENST00000428214.5:c.2613-114_2613-112del	ENSP00000394413.1:n.2613-114_2613-112del
ENST00000438045.5:c.1818-114_1818-112del	ENSP00000410438.1:n.1818-114_1818-112del
ENST00000484913.5:n.2823-114_2823-112del
ENST00000496420.5:n.2676-114_2676-112del
NM_000466.2:c.2784-114_2784-112del	NP_000457.1:n.2784-114_2784-112del
NM_001282677.1:c.2613-114_2613-112del	NP_001269606.1:n.2613-114_2613-112del
NM_001282678.1:c.2160-114_2160-112del	NP_001269607.1:n.2160-114_2160-112del
XM_005250433.3:c.1035-114_1035-112del	XP_005250490.1:n.1035-114_1035-112del
XR_242246.3:n.2880-114_2880-112del
XM_017012319.2:c.1035-114_1035-112del	XP_016867808.1:n.1035-114_1035-112del
XR_001744808.2:n.1811-114_1811-112del
XR_242246.5:n.2831-114_2831-112del
NM_000466.3:c.2784-114_2784-112del MANE Select	NP_000457.1:n.2784-114_2784-112del
NM_001282677.2:c.2613-114_2613-112del	NP_001269606.1:n.2613-114_2613-112del
NM_001282678.2:c.2160-114_2160-112del	NP_001269607.1:n.2160-114_2160-112del