Canonical Allele Identifier: CA16041008
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 371045
ClinVar RCV Id: RCV000409296
dbSNP Id: rs1057516961
MyVariant Identifiers: chr6:g.137143834_137143859del (hg19) chr6:g.136822696_136822721del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822696_136822721del , CM000668.2:g.136822696_136822721del GRCh38
NC_000006.11:g.137143834_137143859del , CM000668.1:g.137143834_137143859del GRCh37
NC_000006.10:g.137185527_137185552del NCBI36
NG_008462.1:g.5117_5142del

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.31_56del MANE Select ENSP00000315680.3:p.Met11LeufsTer?
ENST00000541292.6:c.31_56del ENSP00000441004.1:p.Met11LeufsTer?
ENST00000678593.1:c.31_56del ENSP00000503841.1:p.Met11LeufsTer?
ENST00000318471.4:c.31_56del ENSP00000315680.3:p.Met11LeufsTer?
ENST00000367756.8:c.31_56del ENSP00000356730.4:p.Met11LeufsTer?
ENST00000541292.5:c.31_56del ENSP00000441004.1:p.Met11LeufsTer?
NM_000288.3:c.31_56del NP_000279.1:p.Met11LeufsTer?
XM_006715502.1:c.31_56del XP_006715565.1:p.Met11LeufsTer?
XM_011535900.1:c.31_56del XP_011534202.1:p.Met11LeufsTer?
XM_006715502.2:c.31_56del XP_006715565.1:p.Met11LeufsTer?
XM_017010934.2:c.31_56del XP_016866423.1:p.Met11LeufsTer?
NM_000288.4:c.31_56del MANE Select NP_000279.1:p.Met11LeufsTer?
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