Canonical Allele Identifier: CA1725938087

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511087_92511089delinsAAC , CM000669.2:g.92511087_92511089delinsAAC	GRCh38
NC_000007.13:g.92140401_92140403delinsAAC , CM000669.1:g.92140401_92140403delinsAAC	GRCh37
NC_000007.12:g.91978337_91978339delinsAAC	NCBI36
NG_008341.1:g.22443_22445delinsGTT
NG_008341.2:g.22443_22445delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-42_1484-40delinsGTT MANE Select	ENSP00000248633.4:n.1484-42_1484-40delinsGTT
ENST00000248633.8:c.1484-42_1484-40delinsGTT	ENSP00000248633.4:n.1484-42_1484-40delinsGTT
ENST00000422866.1:c.385-42_385-40delinsGTT
ENST00000428214.5:c.1484-42_1484-40delinsGTT	ENSP00000394413.1:n.1484-42_1484-40delinsGTT
ENST00000438045.5:c.518-42_518-40delinsGTT	ENSP00000410438.1:n.518-42_518-40delinsGTT
ENST00000476923.1:n.245-42_245-40delinsGTT
ENST00000484913.5:n.1523-42_1523-40delinsGTT
NM_000466.2:c.1484-42_1484-40delinsGTT	NP_000457.1:n.1484-42_1484-40delinsGTT
NM_001282677.1:c.1484-42_1484-40delinsGTT	NP_001269606.1:n.1484-42_1484-40delinsGTT
NM_001282678.1:c.860-42_860-40delinsGTT	NP_001269607.1:n.860-42_860-40delinsGTT
XM_005250433.3:c.-183-42_-183-40delinsGTT	XP_005250490.1:n.-183-42_-183-40delinsGTT
XR_242246.3:n.1580-42_1580-40delinsGTT
XM_017012319.2:c.-183-42_-183-40delinsGTT	XP_016867808.1:n.-183-42_-183-40delinsGTT
XR_001744808.2:n.594-42_594-40delinsGTT
XR_242246.5:n.1531-42_1531-40delinsGTT
NM_000466.3:c.1484-42_1484-40delinsGTT MANE Select	NP_000457.1:n.1484-42_1484-40delinsGTT
NM_001282677.2:c.1484-42_1484-40delinsGTT	NP_001269606.1:n.1484-42_1484-40delinsGTT
NM_001282678.2:c.860-42_860-40delinsGTT	NP_001269607.1:n.860-42_860-40delinsGTT