Canonical Allele Identifier: CA2578249327
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194657_186194658del , CM000666.2:g.186194657_186194658del GRCh38
NC_000004.11:g.187115811_187115812del , CM000666.1:g.187115811_187115812del GRCh37
NC_000004.10:g.187352805_187352806del NCBI36
NG_007965.1:g.8138_8139del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.327+45_327+46del MANE Select ENSP00000368079.4:n.327+45_327+46del
ENST00000378802.4:c.327+45_327+46del ENSP00000368079.4:n.327+45_327+46del
NM_207352.3:c.327+45_327+46del NP_997235.3:n.327+45_327+46del
XM_005262935.2:c.327+45_327+46del XP_005262992.1:n.327+45_327+46del
XM_006714184.2:c.17+45_17+46del XP_006714247.1:n.17+45_17+46del
XM_005262935.4:c.327+45_327+46del XP_005262992.1:n.327+45_327+46del
XM_017008037.1:c.17+45_17+46del XP_016863526.1:n.17+45_17+46del
NM_207352.4:c.327+45_327+46del MANE Select NP_997235.3:n.327+45_327+46del