Canonical Allele Identifier: CA2672891624
Gene: CYP4V2 HGNC NCBI

Linked Data

gnomAD v4: 4-186191586-GGGGCGTGGAGGCCGCGGTGCTGCGTAGGCCGGGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191592_186191626del , CM000666.2:g.186191592_186191626del GRCh38
NC_000004.11:g.187112746_187112780del , CM000666.1:g.187112746_187112780del GRCh37
NC_000004.10:g.187349740_187349774del NCBI36
NG_007965.1:g.5073_5107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.-232_-198del MANE Select ENSP00000368079.4:n.-232_-198del
ENST00000378802.4:c.-232_-198del ENSP00000368079.4:n.-232_-198del
NM_207352.3:c.-232_-198del NP_997235.3:n.-232_-198del
XM_005262935.2:c.-232_-198del XP_005262992.1:n.-232_-198del
NM_207352.4:c.-232_-198del MANE Select NP_997235.3:n.-232_-198del
Search 100 bp 5'
Search 100 bp 3'