Canonical Allele Identifier: CA2764868237
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205443_186205444del , CM000666.2:g.186205443_186205444del GRCh38
NC_000004.11:g.187126597_187126598del , CM000666.1:g.187126597_187126598del GRCh37
NC_000004.10:g.187363591_187363592del NCBI36
NG_007965.1:g.18924_18925del
NG_012095.2:g.1465_1466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+141_1090+142del MANE Select ENSP00000368079.4:n.1090+141_1090+142del
ENST00000378802.4:c.1090+141_1090+142del ENSP00000368079.4:n.1090+141_1090+142del
ENST00000502665.1:n.325+141_325+142del
ENST00000507209.5:n.5788+141_5788+142del
ENST00000513354.5:n.180+141_180+142del
NM_207352.3:c.1090+141_1090+142del NP_997235.3:n.1090+141_1090+142del
XM_005262935.2:c.1090+141_1090+142del XP_005262992.1:n.1090+141_1090+142del
XM_006714184.2:c.694+141_694+142del XP_006714247.1:n.694+141_694+142del
XM_005262935.4:c.1090+141_1090+142del XP_005262992.1:n.1090+141_1090+142del
XM_017008037.1:c.694+141_694+142del XP_016863526.1:n.694+141_694+142del
NM_207352.4:c.1090+141_1090+142del MANE Select NP_997235.3:n.1090+141_1090+142del