Canonical Allele Identifier: CA2683718380

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502220-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502221_92502222del , CM000669.2:g.92502221_92502222del	GRCh38
NC_000007.13:g.92131535_92131536del , CM000669.1:g.92131535_92131536del	GRCh37
NC_000007.12:g.91969471_91969472del	NCBI36
NG_008341.1:g.31310_31311del
NG_008341.2:g.31310_31311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-143_2227-142del MANE Select	ENSP00000248633.4:n.2227-143_2227-142del
ENST00000248633.8:c.2227-143_2227-142del	ENSP00000248633.4:n.2227-143_2227-142del
ENST00000428214.5:c.2056-143_2056-142del	ENSP00000394413.1:n.2056-143_2056-142del
ENST00000438045.5:c.1261-143_1261-142del	ENSP00000410438.1:n.1261-143_1261-142del
ENST00000484913.5:n.2266-143_2266-142del
ENST00000496092.1:n.25-143_25-142del
ENST00000496420.5:n.1903-143_1903-142del
NM_000466.2:c.2227-143_2227-142del	NP_000457.1:n.2227-143_2227-142del
NM_001282677.1:c.2056-143_2056-142del	NP_001269606.1:n.2056-143_2056-142del
NM_001282678.1:c.1603-143_1603-142del	NP_001269607.1:n.1603-143_1603-142del
XM_005250433.3:c.478-143_478-142del	XP_005250490.1:n.478-143_478-142del
XR_242246.3:n.2323-143_2323-142del
XM_017012319.2:c.478-143_478-142del	XP_016867808.1:n.478-143_478-142del
XR_001744808.2:n.1254-143_1254-142del
XR_242246.5:n.2274-143_2274-142del
NM_000466.3:c.2227-143_2227-142del MANE Select	NP_000457.1:n.2227-143_2227-142del
NM_001282677.2:c.2056-143_2056-142del	NP_001269606.1:n.2056-143_2056-142del
NM_001282678.2:c.1603-143_1603-142del	NP_001269607.1:n.1603-143_1603-142del