Canonical Allele Identifier: CA1725938170

Gene: PEX1

Linked Data

• dbSNP Id: rs1792443856

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511145_92511146insC , CM000669.2:g.92511145_92511146insC	GRCh38
NC_000007.13:g.92140459_92140460insC , CM000669.1:g.92140459_92140460insC	GRCh37
NC_000007.12:g.91978395_91978396insC	NCBI36
NG_008341.1:g.22386_22387insG
NG_008341.2:g.22386_22387insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-99_1484-98insG MANE Select	ENSP00000248633.4:n.1484-99_1484-98insG
ENST00000248633.8:c.1484-99_1484-98insG	ENSP00000248633.4:n.1484-99_1484-98insG
ENST00000422866.1:c.385-99_385-98insG
ENST00000428214.5:c.1484-99_1484-98insG	ENSP00000394413.1:n.1484-99_1484-98insG
ENST00000438045.5:c.518-99_518-98insG	ENSP00000410438.1:n.518-99_518-98insG
ENST00000476923.1:n.245-99_245-98insG
ENST00000484913.5:n.1523-99_1523-98insG
NM_000466.2:c.1484-99_1484-98insG	NP_000457.1:n.1484-99_1484-98insG
NM_001282677.1:c.1484-99_1484-98insG	NP_001269606.1:n.1484-99_1484-98insG
NM_001282678.1:c.860-99_860-98insG	NP_001269607.1:n.860-99_860-98insG
XM_005250433.3:c.-183-99_-183-98insG	XP_005250490.1:n.-183-99_-183-98insG
XR_242246.3:n.1580-99_1580-98insG
XM_017012319.2:c.-183-99_-183-98insG	XP_016867808.1:n.-183-99_-183-98insG
XR_001744808.2:n.594-99_594-98insG
XR_242246.5:n.1531-99_1531-98insG
NM_000466.3:c.1484-99_1484-98insG MANE Select	NP_000457.1:n.1484-99_1484-98insG
NM_001282677.2:c.1484-99_1484-98insG	NP_001269606.1:n.1484-99_1484-98insG
NM_001282678.2:c.860-99_860-98insG	NP_001269607.1:n.860-99_860-98insG