Canonical Allele Identifier: CA843848804

Gene: PEX1

Linked Data

• dbSNP Id: rs1439028512
• gnomAD v3: 7-92504655-GAGT-G
• gnomAD v4: 7-92504655-GAGT-G
• MyVariant Identifiers: chr7:g.92133970_92133972del (hg19) ; chr7:g.92504656_92504658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504658_92504660del , CM000669.2:g.92504658_92504660del	GRCh38
NC_000007.13:g.92133972_92133974del , CM000669.1:g.92133972_92133974del	GRCh37
NC_000007.12:g.91971908_91971910del	NCBI36
NG_008341.1:g.28874_28876del
NG_008341.2:g.28874_28876del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+74_2071+76del MANE Select	ENSP00000248633.4:n.2071+74_2071+76del
ENST00000248633.8:c.2071+74_2071+76del	ENSP00000248633.4:n.2071+74_2071+76del
ENST00000428214.5:c.1901-1463_1901-1461del	ENSP00000394413.1:n.1901-1463_1901-1461de...
ENST00000438045.5:c.1105+74_1105+76del	ENSP00000410438.1:n.1105+74_1105+76del
ENST00000484913.5:n.2110+74_2110+76del
ENST00000496420.5:n.1747+74_1747+76del
NM_000466.2:c.2071+74_2071+76del	NP_000457.1:n.2071+74_2071+76del
NM_001282677.1:c.1901-1463_1901-1461del	NP_001269606.1:n.1901-1463_1901-1461del
NM_001282678.1:c.1447+74_1447+76del	NP_001269607.1:n.1447+74_1447+76del
XM_005250433.3:c.322+74_322+76del	XP_005250490.1:n.322+74_322+76del
XR_242246.3:n.2167+74_2167+76del
XM_017012319.2:c.322+74_322+76del	XP_016867808.1:n.322+74_322+76del
XR_001744808.2:n.1098+74_1098+76del
XR_242246.5:n.2118+74_2118+76del
NM_000466.3:c.2071+74_2071+76del MANE Select	NP_000457.1:n.2071+74_2071+76del
NM_001282677.2:c.1901-1463_1901-1461del	NP_001269606.1:n.1901-1463_1901-1461del
NM_001282678.2:c.1447+74_1447+76del	NP_001269607.1:n.1447+74_1447+76del