Canonical Allele Identifier: CA4341228

Gene: PEX1

Linked Data

• dbSNP Id: rs745709474
• ExAC: 7:92134061 GGC / G
• gnomAD v2: 7-92134061-GGC-G
• MyVariant Identifiers: chr7:g.92134062_92134063del (hg19) ; chr7:g.92504748_92504749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504748_92504749del , CM000669.2:g.92504748_92504749del	GRCh38
NC_000007.13:g.92134062_92134063del , CM000669.1:g.92134062_92134063del	GRCh37
NC_000007.12:g.91971998_91971999del	NCBI36
NG_008341.1:g.28783_28784del
NG_008341.2:g.28783_28784del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2054_2055del MANE Select	ENSP00000248633.4:p.Ser685ThrfsTer9
ENST00000248633.8:c.2054_2055del	ENSP00000248633.4:p.Ser685ThrfsTer9
ENST00000428214.5:c.1900+1499_1900+1500del	ENSP00000394413.1:n.1900+1499_1900+1500de...
ENST00000438045.5:c.1088_1089del	ENSP00000410438.1:p.Ser363ThrfsTer9
ENST00000484913.5:n.2093_2094del
ENST00000496420.5:n.1730_1731del
NM_000466.2:c.2054_2055del	NP_000457.1:p.Ser685ThrfsTer9
NM_001282677.1:c.1900+1499_1900+1500del	NP_001269606.1:n.1900+1499_1900+1500del
NM_001282678.1:c.1430_1431del	NP_001269607.1:p.Ser477ThrfsTer9
XM_005250433.3:c.305_306del	XP_005250490.1:p.Ser102ThrfsTer9
XR_242246.3:n.2150_2151del
XM_017012319.2:c.305_306del	XP_016867808.1:p.Ser102ThrfsTer9
XR_001744808.2:n.1081_1082del
XR_242246.5:n.2101_2102del
NM_000466.3:c.2054_2055del MANE Select	NP_000457.1:p.Ser685ThrfsTer9
NM_001282677.2:c.1900+1499_1900+1500del	NP_001269606.1:n.1900+1499_1900+1500del
NM_001282678.2:c.1430_1431del	NP_001269607.1:p.Ser477ThrfsTer9