Canonical Allele Identifier: CA2659190625
Gene: PEX13 HGNC NCBI

Linked Data

gnomAD v4: 2-61031928-TAAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031933_61031935del , CM000664.2:g.61031933_61031935del GRCh38
NC_000002.11:g.61259068_61259070del , CM000664.1:g.61259068_61259070del GRCh37
NC_000002.10:g.61112572_61112574del NCBI36
NG_008665.1:g.19257_19259del

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.607_609del MANE Select ENSP00000295030.4:p.Arg203del
ENST00000295030.5:c.607_609del ENSP00000295030.4:p.Arg203del
NM_002618.3:c.607_609del NP_002609.1:p.Arg203del
XM_011532904.1:c.490_492del XP_011531206.1:p.Arg164del
NM_002618.4:c.607_609del MANE Select NP_002609.1:p.Arg203del
Search 100 bp 5'
Search 100 bp 3'