Canonical Allele Identifier: CA2776947280

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511093_92511096del , CM000669.2:g.92511093_92511096del	GRCh38
NC_000007.13:g.92140407_92140410del , CM000669.1:g.92140407_92140410del	GRCh37
NC_000007.12:g.91978343_91978346del	NCBI36
NG_008341.1:g.22436_22439del
NG_008341.2:g.22436_22439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-49_1484-46del MANE Select	ENSP00000248633.4:n.1484-49_1484-46del
ENST00000248633.8:c.1484-49_1484-46del	ENSP00000248633.4:n.1484-49_1484-46del
ENST00000422866.1:c.385-49_385-46del
ENST00000428214.5:c.1484-49_1484-46del	ENSP00000394413.1:n.1484-49_1484-46del
ENST00000438045.5:c.518-49_518-46del	ENSP00000410438.1:n.518-49_518-46del
ENST00000476923.1:n.245-49_245-46del
ENST00000484913.5:n.1523-49_1523-46del
NM_000466.2:c.1484-49_1484-46del	NP_000457.1:n.1484-49_1484-46del
NM_001282677.1:c.1484-49_1484-46del	NP_001269606.1:n.1484-49_1484-46del
NM_001282678.1:c.860-49_860-46del	NP_001269607.1:n.860-49_860-46del
XM_005250433.3:c.-183-49_-183-46del	XP_005250490.1:n.-183-49_-183-46del
XR_242246.3:n.1580-49_1580-46del
XM_017012319.2:c.-183-49_-183-46del	XP_016867808.1:n.-183-49_-183-46del
XR_001744808.2:n.594-49_594-46del
XR_242246.5:n.1531-49_1531-46del
NM_000466.3:c.1484-49_1484-46del MANE Select	NP_000457.1:n.1484-49_1484-46del
NM_001282677.2:c.1484-49_1484-46del	NP_001269606.1:n.1484-49_1484-46del
NM_001282678.2:c.860-49_860-46del	NP_001269607.1:n.860-49_860-46del