Canonical Allele Identifier: CA2695204073
Gene: CYP4V2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196940_186196976del , CM000666.2:g.186196940_186196976del GRCh38
NC_000004.11:g.187118094_187118130del , CM000666.1:g.187118094_187118130del GRCh37
NC_000004.10:g.187355088_187355124del NCBI36
NG_007965.1:g.10421_10457del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.414_450del MANE Select ENSP00000368079.4:p.Ser138ArgfsTer14
ENST00000378802.4:c.414_450del ENSP00000368079.4:p.Ser138ArgfsTer14
ENST00000507209.5:n.853_889del
NM_207352.3:c.414_450del NP_997235.3:p.Ser138ArgfsTer14
XM_005262935.2:c.414_450del XP_005262992.1:p.Ser138ArgfsTer14
XM_006714184.2:c.18_54del XP_006714247.1:p.Ser6ArgfsTer14
XM_005262935.4:c.414_450del XP_005262992.1:p.Ser138ArgfsTer14
XM_017008037.1:c.18_54del XP_016863526.1:p.Ser6ArgfsTer14
NM_207352.4:c.414_450del MANE Select NP_997235.3:p.Ser138ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'