Canonical Allele Identifier: CA2683718340

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502196-TTGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502199_92502202del , CM000669.2:g.92502199_92502202del	GRCh38
NC_000007.13:g.92131513_92131516del , CM000669.1:g.92131513_92131516del	GRCh37
NC_000007.12:g.91969449_91969452del	NCBI36
NG_008341.1:g.31332_31335del
NG_008341.2:g.31332_31335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-121_2227-118del MANE Select	ENSP00000248633.4:n.2227-121_2227-118del
ENST00000248633.8:c.2227-121_2227-118del	ENSP00000248633.4:n.2227-121_2227-118del
ENST00000428214.5:c.2056-121_2056-118del	ENSP00000394413.1:n.2056-121_2056-118del
ENST00000438045.5:c.1261-121_1261-118del	ENSP00000410438.1:n.1261-121_1261-118del
ENST00000484913.5:n.2266-121_2266-118del
ENST00000496092.1:n.25-121_25-118del
ENST00000496420.5:n.1903-121_1903-118del
NM_000466.2:c.2227-121_2227-118del	NP_000457.1:n.2227-121_2227-118del
NM_001282677.1:c.2056-121_2056-118del	NP_001269606.1:n.2056-121_2056-118del
NM_001282678.1:c.1603-121_1603-118del	NP_001269607.1:n.1603-121_1603-118del
XM_005250433.3:c.478-121_478-118del	XP_005250490.1:n.478-121_478-118del
XR_242246.3:n.2323-121_2323-118del
XM_017012319.2:c.478-121_478-118del	XP_016867808.1:n.478-121_478-118del
XR_001744808.2:n.1254-121_1254-118del
XR_242246.5:n.2274-121_2274-118del
NM_000466.3:c.2227-121_2227-118del MANE Select	NP_000457.1:n.2227-121_2227-118del
NM_001282677.2:c.2056-121_2056-118del	NP_001269606.1:n.2056-121_2056-118del
NM_001282678.2:c.1603-121_1603-118del	NP_001269607.1:n.1603-121_1603-118del