Canonical Allele Identifier: CA2683720549

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511116-ATGTCAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511118_92511125del , CM000669.2:g.92511118_92511125del	GRCh38
NC_000007.13:g.92140432_92140439del , CM000669.1:g.92140432_92140439del	GRCh37
NC_000007.12:g.91978368_91978375del	NCBI36
NG_008341.1:g.22408_22415del
NG_008341.2:g.22408_22415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-77_1484-70del MANE Select	ENSP00000248633.4:n.1484-77_1484-70del
ENST00000248633.8:c.1484-77_1484-70del	ENSP00000248633.4:n.1484-77_1484-70del
ENST00000422866.1:c.385-77_385-70del
ENST00000428214.5:c.1484-77_1484-70del	ENSP00000394413.1:n.1484-77_1484-70del
ENST00000438045.5:c.518-77_518-70del	ENSP00000410438.1:n.518-77_518-70del
ENST00000476923.1:n.245-77_245-70del
ENST00000484913.5:n.1523-77_1523-70del
NM_000466.2:c.1484-77_1484-70del	NP_000457.1:n.1484-77_1484-70del
NM_001282677.1:c.1484-77_1484-70del	NP_001269606.1:n.1484-77_1484-70del
NM_001282678.1:c.860-77_860-70del	NP_001269607.1:n.860-77_860-70del
XM_005250433.3:c.-183-77_-183-70del	XP_005250490.1:n.-183-77_-183-70del
XR_242246.3:n.1580-77_1580-70del
XM_017012319.2:c.-183-77_-183-70del	XP_016867808.1:n.-183-77_-183-70del
XR_001744808.2:n.594-77_594-70del
XR_242246.5:n.1531-77_1531-70del
NM_000466.3:c.1484-77_1484-70del MANE Select	NP_000457.1:n.1484-77_1484-70del
NM_001282677.2:c.1484-77_1484-70del	NP_001269606.1:n.1484-77_1484-70del
NM_001282678.2:c.860-77_860-70del	NP_001269607.1:n.860-77_860-70del