Canonical Allele Identifier: CA1519889229
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs3216724

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205400_186205401del , CM000666.2:g.186205400_186205401del GRCh38
NC_000004.11:g.187126554_187126555del , CM000666.1:g.187126554_187126555del GRCh37
NC_000004.10:g.187363548_187363549del NCBI36
NG_007965.1:g.18881_18882del
NG_012095.2:g.1422_1423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+98_1090+99del MANE Select ENSP00000368079.4:n.1090+98_1090+99del
ENST00000378802.4:c.1090+98_1090+99del ENSP00000368079.4:n.1090+98_1090+99del
ENST00000502665.1:n.325+98_325+99del
ENST00000507209.5:n.5788+98_5788+99del
ENST00000513354.5:n.180+98_180+99del
NM_207352.3:c.1090+98_1090+99del NP_997235.3:n.1090+98_1090+99del
XM_005262935.2:c.1090+98_1090+99del XP_005262992.1:n.1090+98_1090+99del
XM_006714184.2:c.694+98_694+99del XP_006714247.1:n.694+98_694+99del
XM_005262935.4:c.1090+98_1090+99del XP_005262992.1:n.1090+98_1090+99del
XM_017008037.1:c.694+98_694+99del XP_016863526.1:n.694+98_694+99del
NM_207352.4:c.1090+98_1090+99del MANE Select NP_997235.3:n.1090+98_1090+99del