Canonical Allele Identifier: CA2776947286

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511134_92511135insACG , CM000669.2:g.92511134_92511135insACG	GRCh38
NC_000007.13:g.92140448_92140449insACG , CM000669.1:g.92140448_92140449insACG	GRCh37
NC_000007.12:g.91978384_91978385insACG	NCBI36
NG_008341.1:g.22397_22398insCGT
NG_008341.2:g.22397_22398insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-88_1484-87insCGT MANE Select	ENSP00000248633.4:n.1484-88_1484-87insCGT
ENST00000248633.8:c.1484-88_1484-87insCGT	ENSP00000248633.4:n.1484-88_1484-87insCGT
ENST00000422866.1:c.385-88_385-87insCGT
ENST00000428214.5:c.1484-88_1484-87insCGT	ENSP00000394413.1:n.1484-88_1484-87insCGT
ENST00000438045.5:c.518-88_518-87insCGT	ENSP00000410438.1:n.518-88_518-87insCGT
ENST00000476923.1:n.245-88_245-87insCGT
ENST00000484913.5:n.1523-88_1523-87insCGT
NM_000466.2:c.1484-88_1484-87insCGT	NP_000457.1:n.1484-88_1484-87insCGT
NM_001282677.1:c.1484-88_1484-87insCGT	NP_001269606.1:n.1484-88_1484-87insCGT
NM_001282678.1:c.860-88_860-87insCGT	NP_001269607.1:n.860-88_860-87insCGT
XM_005250433.3:c.-183-88_-183-87insCGT	XP_005250490.1:n.-183-88_-183-87insCGT
XR_242246.3:n.1580-88_1580-87insCGT
XM_017012319.2:c.-183-88_-183-87insCGT	XP_016867808.1:n.-183-88_-183-87insCGT
XR_001744808.2:n.594-88_594-87insCGT
XR_242246.5:n.1531-88_1531-87insCGT
NM_000466.3:c.1484-88_1484-87insCGT MANE Select	NP_000457.1:n.1484-88_1484-87insCGT
NM_001282677.2:c.1484-88_1484-87insCGT	NP_001269606.1:n.1484-88_1484-87insCGT
NM_001282678.2:c.860-88_860-87insCGT	NP_001269607.1:n.860-88_860-87insCGT