Canonical Allele Identifier: CA2683718254

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502122-ACTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502123_92502126del , CM000669.2:g.92502123_92502126del	GRCh38
NC_000007.13:g.92131437_92131440del , CM000669.1:g.92131437_92131440del	GRCh37
NC_000007.12:g.91969373_91969376del	NCBI36
NG_008341.1:g.31406_31409del
NG_008341.2:g.31406_31409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2227-47_2227-44del MANE Select	ENSP00000248633.4:n.2227-47_2227-44del
ENST00000248633.8:c.2227-47_2227-44del	ENSP00000248633.4:n.2227-47_2227-44del
ENST00000428214.5:c.2056-47_2056-44del	ENSP00000394413.1:n.2056-47_2056-44del
ENST00000438045.5:c.1261-47_1261-44del	ENSP00000410438.1:n.1261-47_1261-44del
ENST00000484913.5:n.2266-47_2266-44del
ENST00000496092.1:n.25-47_25-44del
ENST00000496420.5:n.1903-47_1903-44del
NM_000466.2:c.2227-47_2227-44del	NP_000457.1:n.2227-47_2227-44del
NM_001282677.1:c.2056-47_2056-44del	NP_001269606.1:n.2056-47_2056-44del
NM_001282678.1:c.1603-47_1603-44del	NP_001269607.1:n.1603-47_1603-44del
XM_005250433.3:c.478-47_478-44del	XP_005250490.1:n.478-47_478-44del
XR_242246.3:n.2323-47_2323-44del
XM_017012319.2:c.478-47_478-44del	XP_016867808.1:n.478-47_478-44del
XR_001744808.2:n.1254-47_1254-44del
XR_242246.5:n.2274-47_2274-44del
NM_000466.3:c.2227-47_2227-44del MANE Select	NP_000457.1:n.2227-47_2227-44del
NM_001282677.2:c.2056-47_2056-44del	NP_001269606.1:n.2056-47_2056-44del
NM_001282678.2:c.1603-47_1603-44del	NP_001269607.1:n.1603-47_1603-44del