Canonical Allele Identifier: CA2683719879

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517257-TTATAAAATTTATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517258_92517270del , CM000669.2:g.92517258_92517270del	GRCh38
NC_000007.13:g.92146572_92146584del , CM000669.1:g.92146572_92146584del	GRCh37
NC_000007.12:g.91984508_91984520del	NCBI36
NG_008341.1:g.16262_16274del
NG_008341.2:g.16262_16274del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1239+6_1239+18del MANE Select	ENSP00000248633.4:n.1239+6_1239+18del
ENST00000248633.8:c.1239+6_1239+18del	ENSP00000248633.4:n.1239+6_1239+18del
ENST00000422866.1:c.140+6_140+18del
ENST00000428214.5:c.1239+6_1239+18del	ENSP00000394413.1:n.1239+6_1239+18del
ENST00000438045.5:c.274-3303_274-3291del	ENSP00000410438.1:n.274-3303_274-3291del
ENST00000484913.5:n.1278+6_1278+18del
NM_000466.2:c.1239+6_1239+18del	NP_000457.1:n.1239+6_1239+18del
NM_001282677.1:c.1239+6_1239+18del	NP_001269606.1:n.1239+6_1239+18del
NM_001282678.1:c.615+6_615+18del	NP_001269607.1:n.615+6_615+18del
XR_242246.3:n.1335+6_1335+18del
XM_017012319.2:c.-428+6_-428+18del	XP_016867808.1:n.-428+6_-428+18del
XR_001744808.2:n.349+6_349+18del
XR_242246.5:n.1286+6_1286+18del
NM_000466.3:c.1239+6_1239+18del MANE Select	NP_000457.1:n.1239+6_1239+18del
NM_001282677.2:c.1239+6_1239+18del	NP_001269606.1:n.1239+6_1239+18del
NM_001282678.2:c.615+6_615+18del	NP_001269607.1:n.615+6_615+18del