Canonical Allele Identifier: CA2764868022
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197732_186197735del , CM000666.2:g.186197732_186197735del GRCh38
NC_000004.11:g.187118886_187118889del , CM000666.1:g.187118886_187118889del GRCh37
NC_000004.10:g.187355880_187355883del NCBI36
NG_007965.1:g.11213_11216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.674+130_674+133del MANE Select ENSP00000368079.4:n.674+130_674+133del
ENST00000378802.4:c.674+130_674+133del ENSP00000368079.4:n.674+130_674+133del
ENST00000507209.5:n.1515+130_1515+133del
NM_207352.3:c.674+130_674+133del NP_997235.3:n.674+130_674+133del
XM_005262935.2:c.674+130_674+133del XP_005262992.1:n.674+130_674+133del
XM_006714184.2:c.278+130_278+133del XP_006714247.1:n.278+130_278+133del
XM_005262935.4:c.674+130_674+133del XP_005262992.1:n.674+130_674+133del
XM_017008037.1:c.278+130_278+133del XP_016863526.1:n.278+130_278+133del
NM_207352.4:c.674+130_674+133del MANE Select NP_997235.3:n.674+130_674+133del