Canonical Allele Identifier: CA2764867168
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194672_186194673del , CM000666.2:g.186194672_186194673del GRCh38
NC_000004.11:g.187115826_187115827del , CM000666.1:g.187115826_187115827del GRCh37
NC_000004.10:g.187352820_187352821del NCBI36
NG_007965.1:g.8153_8154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.327+60_327+61del MANE Select ENSP00000368079.4:n.327+60_327+61del
ENST00000378802.4:c.327+60_327+61del ENSP00000368079.4:n.327+60_327+61del
NM_207352.3:c.327+60_327+61del NP_997235.3:n.327+60_327+61del
XM_005262935.2:c.327+60_327+61del XP_005262992.1:n.327+60_327+61del
XM_006714184.2:c.17+60_17+61del XP_006714247.1:n.17+60_17+61del
XM_005262935.4:c.327+60_327+61del XP_005262992.1:n.327+60_327+61del
XM_017008037.1:c.17+60_17+61del XP_016863526.1:n.17+60_17+61del
NM_207352.4:c.327+60_327+61del MANE Select NP_997235.3:n.327+60_327+61del