Canonical Allele Identifier: CA2776947279

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511085_92511087del , CM000669.2:g.92511085_92511087del	GRCh38
NC_000007.13:g.92140399_92140401del , CM000669.1:g.92140399_92140401del	GRCh37
NC_000007.12:g.91978335_91978337del	NCBI36
NG_008341.1:g.22445_22447del
NG_008341.2:g.22445_22447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-40_1484-38del MANE Select	ENSP00000248633.4:n.1484-40_1484-38del
ENST00000248633.8:c.1484-40_1484-38del	ENSP00000248633.4:n.1484-40_1484-38del
ENST00000422866.1:c.385-40_385-38del
ENST00000428214.5:c.1484-40_1484-38del	ENSP00000394413.1:n.1484-40_1484-38del
ENST00000438045.5:c.518-40_518-38del	ENSP00000410438.1:n.518-40_518-38del
ENST00000476923.1:n.245-40_245-38del
ENST00000484913.5:n.1523-40_1523-38del
NM_000466.2:c.1484-40_1484-38del	NP_000457.1:n.1484-40_1484-38del
NM_001282677.1:c.1484-40_1484-38del	NP_001269606.1:n.1484-40_1484-38del
NM_001282678.1:c.860-40_860-38del	NP_001269607.1:n.860-40_860-38del
XM_005250433.3:c.-183-40_-183-38del	XP_005250490.1:n.-183-40_-183-38del
XR_242246.3:n.1580-40_1580-38del
XM_017012319.2:c.-183-40_-183-38del	XP_016867808.1:n.-183-40_-183-38del
XR_001744808.2:n.594-40_594-38del
XR_242246.5:n.1531-40_1531-38del
NM_000466.3:c.1484-40_1484-38del MANE Select	NP_000457.1:n.1484-40_1484-38del
NM_001282677.2:c.1484-40_1484-38del	NP_001269606.1:n.1484-40_1484-38del
NM_001282678.2:c.860-40_860-38del	NP_001269607.1:n.860-40_860-38del