Canonical Allele Identifier: CA3162717
Gene: CYP4V2 HGNC NCBI
gnomAD v2:
4:187126317 ACT / A
gnomAD v3:
4:186205163 ACT / A
gnomAD v4:
chr4-186205163-ACT-A
Joint Max Group AF 0.00154991 (SAS)
Genomes Max Group AF 0.00143632 (SAS)
Exomes Max Group AF 0.00150664 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205166_186205167del , CM000666.2:g.186205166_186205167del GRCh38
NC_000004.11:g.187126320_187126321del , CM000666.1:g.187126320_187126321del GRCh37
NC_000004.10:g.187363314_187363315del NCBI36
NG_007965.1:g.18647_18648del
NG_012095.2:g.1188_1189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.988-34_988-33del MANE Select ENSP00000368079.4:n.988-34_988-33del
ENST00000378802.4:c.988-34_988-33del ENSP00000368079.4:n.988-34_988-33del
ENST00000502665.1:n.223-34_223-33del
ENST00000507209.5:n.5652_5653del
ENST00000513354.5:n.78-34_78-33del
NM_207352.3:c.988-34_988-33del NP_997235.3:n.988-34_988-33del
XM_005262935.2:c.988-34_988-33del XP_005262992.1:n.988-34_988-33del
XM_006714184.2:c.592-34_592-33del XP_006714247.1:n.592-34_592-33del
XM_005262935.4:c.988-34_988-33del XP_005262992.1:n.988-34_988-33del
XM_017008037.1:c.592-34_592-33del XP_016863526.1:n.592-34_592-33del
NM_207352.4:c.988-34_988-33del MANE Select NP_997235.3:n.988-34_988-33del
Search 100 bp 5'
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