Canonical Allele Identifier: CA2573052322
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322187
ClinVar RCV Id: RCV001780606
dbSNP Id: rs2126582121
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194552del , CM000666.2:g.186194552del GRCh38
NC_000004.11:g.187115706del , CM000666.1:g.187115706del GRCh37
NC_000004.10:g.187352700del NCBI36
NG_007965.1:g.8033del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.267del MANE Select ENSP00000368079.4:p.Leu90Ter
ENST00000378802.4:c.267del ENSP00000368079.4:p.Leu90Ter
NM_207352.3:c.267del NP_997235.3:p.Leu90Ter
XM_005262935.2:c.267del XP_005262992.1:p.Leu90Ter
XM_006714184.2:c.-44del XP_006714247.1:n.-44del
XM_005262935.4:c.267del XP_005262992.1:p.Leu90Ter
XM_017008037.1:c.-44del XP_016863526.1:n.-44del
NM_207352.4:c.267del MANE Select NP_997235.3:p.Leu90Ter
Search 100 bp 5'
Search 100 bp 3'