Canonical Allele Identifier: CA2764867337
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194755_186194756del , CM000666.2:g.186194755_186194756del GRCh38
NC_000004.11:g.187115909_187115910del , CM000666.1:g.187115909_187115910del GRCh37
NC_000004.10:g.187352903_187352904del NCBI36
NG_007965.1:g.8236_8237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.327+143_327+144del MANE Select ENSP00000368079.4:n.327+143_327+144del
ENST00000378802.4:c.327+143_327+144del ENSP00000368079.4:n.327+143_327+144del
NM_207352.3:c.327+143_327+144del NP_997235.3:n.327+143_327+144del
XM_005262935.2:c.327+143_327+144del XP_005262992.1:n.327+143_327+144del
XM_006714184.2:c.17+143_17+144del XP_006714247.1:n.17+143_17+144del
XM_005262935.4:c.327+143_327+144del XP_005262992.1:n.327+143_327+144del
XM_017008037.1:c.17+143_17+144del XP_016863526.1:n.17+143_17+144del
NM_207352.4:c.327+143_327+144del MANE Select NP_997235.3:n.327+143_327+144del