Canonical Allele Identifier: CA2672897661
Gene: CYP4V2 HGNC NCBI

Linked Data

gnomAD v4: 4-186197542-TGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197545_186197546del , CM000666.2:g.186197545_186197546del GRCh38
NC_000004.11:g.187118699_187118700del , CM000666.1:g.187118699_187118700del GRCh37
NC_000004.10:g.187355693_187355694del NCBI36
NG_007965.1:g.11026_11027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.617_618del MANE Select ENSP00000368079.4:p.Gly206GlufsTer8
ENST00000378802.4:c.617_618del ENSP00000368079.4:p.Gly206GlufsTer8
ENST00000507209.5:n.1458_1459del
NM_207352.3:c.617_618del NP_997235.3:p.Gly206GlufsTer8
XM_005262935.2:c.617_618del XP_005262992.1:p.Gly206GlufsTer8
XM_006714184.2:c.221_222del XP_006714247.1:p.Gly74GlufsTer8
XM_005262935.4:c.617_618del XP_005262992.1:p.Gly206GlufsTer8
XM_017008037.1:c.221_222del XP_016863526.1:p.Gly74GlufsTer8
NM_207352.4:c.617_618del MANE Select NP_997235.3:p.Gly206GlufsTer8
Search 100 bp 5'
Search 100 bp 3'