Canonical Allele Identifier: CA2764868042
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205377_186205391del , CM000666.2:g.186205377_186205391del GRCh38
NC_000004.11:g.187126531_187126545del , CM000666.1:g.187126531_187126545del GRCh37
NC_000004.10:g.187363525_187363539del NCBI36
NG_007965.1:g.18858_18872del
NG_012095.2:g.1399_1413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+75_1090+89del MANE Select ENSP00000368079.4:n.1090+75_1090+89del
ENST00000378802.4:c.1090+75_1090+89del ENSP00000368079.4:n.1090+75_1090+89del
ENST00000502665.1:n.325+75_325+89del
ENST00000507209.5:n.5788+75_5788+89del
ENST00000513354.5:n.180+75_180+89del
NM_207352.3:c.1090+75_1090+89del NP_997235.3:n.1090+75_1090+89del
XM_005262935.2:c.1090+75_1090+89del XP_005262992.1:n.1090+75_1090+89del
XM_006714184.2:c.694+75_694+89del XP_006714247.1:n.694+75_694+89del
XM_005262935.4:c.1090+75_1090+89del XP_005262992.1:n.1090+75_1090+89del
XM_017008037.1:c.694+75_694+89del XP_016863526.1:n.694+75_694+89del
NM_207352.4:c.1090+75_1090+89del MANE Select NP_997235.3:n.1090+75_1090+89del