Canonical Allele Identifier: CA2683720440

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510808-AAATCAAGTTATTCCTTACTCTTAGCAGGTTTTTAATACACTTCACAATGCAAGGTGTTACAAGGAACTTCATACTTTATTATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510814_92510896del , CM000669.2:g.92510814_92510896del	GRCh38
NC_000007.13:g.92140128_92140210del , CM000669.1:g.92140128_92140210del	GRCh37
NC_000007.12:g.91978064_91978146del	NCBI36
NG_008341.1:g.22641_22723del
NG_008341.2:g.22641_22723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1587+53_1587+135del MANE Select	ENSP00000248633.4:n.1587+53_1587+135del
ENST00000248633.8:c.1587+53_1587+135del	ENSP00000248633.4:n.1587+53_1587+135del
ENST00000422866.1:c.488+53_488+135del
ENST00000428214.5:c.1587+53_1587+135del	ENSP00000394413.1:n.1587+53_1587+135del
ENST00000438045.5:c.621+53_621+135del	ENSP00000410438.1:n.621+53_621+135del
ENST00000484913.5:n.1626+53_1626+135del
NM_000466.2:c.1587+53_1587+135del	NP_000457.1:n.1587+53_1587+135del
NM_001282677.1:c.1587+53_1587+135del	NP_001269606.1:n.1587+53_1587+135del
NM_001282678.1:c.963+53_963+135del	NP_001269607.1:n.963+53_963+135del
XM_005250433.3:c.-80+53_-80+135del	XP_005250490.1:n.-80+53_-80+135del
XR_242246.3:n.1683+53_1683+135del
XM_017012319.2:c.-80+53_-80+135del	XP_016867808.1:n.-80+53_-80+135del
XR_001744808.2:n.697+53_697+135del
XR_242246.5:n.1634+53_1634+135del
NM_000466.3:c.1587+53_1587+135del MANE Select	NP_000457.1:n.1587+53_1587+135del
NM_001282677.2:c.1587+53_1587+135del	NP_001269606.1:n.1587+53_1587+135del
NM_001282678.2:c.963+53_963+135del	NP_001269607.1:n.963+53_963+135del