Canonical Allele Identifier: CA2695204077
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186201158_186201163del , CM000666.2:g.186201158_186201163del GRCh38
NC_000004.11:g.187122312_187122317del , CM000666.1:g.187122312_187122317del GRCh37
NC_000004.10:g.187359306_187359311del NCBI36
NG_007965.1:g.14639_14644del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.803_808del MANE Select ENSP00000368079.4:p.Val268_Ile269del
ENST00000378802.4:c.803_808del ENSP00000368079.4:p.Val268_Ile269del
ENST00000507209.5:n.1644_1649del
NM_207352.3:c.803_808del NP_997235.3:p.Val268_Ile269del
XM_005262935.2:c.803_808del XP_005262992.1:p.Val268_Ile269del
XM_006714184.2:c.407_412del XP_006714247.1:p.Val136_Ile137del
XM_005262935.4:c.803_808del XP_005262992.1:p.Val268_Ile269del
XM_017008037.1:c.407_412del XP_016863526.1:p.Val136_Ile137del
NM_207352.4:c.803_808del MANE Select NP_997235.3:p.Val268_Ile269del