Canonical Allele Identifier: CA820103631
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs765616624
MyVariant Identifiers: chr6:g.143806429_143806430insGTG (hg19) chr6:g.143485292_143485293insGTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485301_143485303dup , CM000668.2:g.143485301_143485303dup GRCh38
NC_000006.11:g.143806438_143806440dup , CM000668.1:g.143806438_143806440dup GRCh37
NC_000006.10:g.143848131_143848133dup NCBI36
NG_008459.1:g.39521_39523dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+53_1038+55dup MANE Select ENSP00000356563.4:n.1038+53_1038+55dup
ENST00000367591.4:c.1038+53_1038+55dup ENSP00000356563.4:n.1038+53_1038+55dup
ENST00000585848.1:n.177+53_177+55dup
NM_003630.2:c.1038+53_1038+55dup NP_003621.1:n.1038+53_1038+55dup
NM_003630.3:c.1038+53_1038+55dup MANE Select NP_003621.1:n.1038+53_1038+55dup
Search 100 bp 5'
Search 100 bp 3'