Canonical Allele Identifier: CA1519891322
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208948_186208957delinsTTTCCTTCTG , CM000666.2:g.186208948_186208957delinsTTTCCTTCTG GRCh38
NC_000004.11:g.187130102_187130111delinsTTTCCTTCTG , CM000666.1:g.187130102_187130111delinsTTTCCTTCTG GRCh37
NC_000004.10:g.187367096_187367105delinsTTTCCTTCTG NCBI36
NG_007965.1:g.22429_22438delinsTTTCCTTCTG
NG_012095.2:g.4970_4979delinsTTTCCTTCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1174_1183delinsTTTCCTTCTG MANE Select ENSP00000368079.4:p.Phe392=
ENST00000378802.4:c.1174_1183delinsTTTCCTTCTG ENSP00000368079.4:p.Phe392=
ENST00000502665.1:n.409_418delinsTTTCCTTCTG
ENST00000507209.5:n.5872_5881delinsTTTCCTTCTG
ENST00000513354.5:n.264_273delinsTTTCCTTCTG
NM_207352.3:c.1174_1183delinsTTTCCTTCTG NP_997235.3:p.Phe392=
XM_005262935.2:c.1174_1183delinsTTTCCTTCTG XP_005262992.1:p.Phe392=
XM_006714184.2:c.778_787delinsTTTCCTTCTG XP_006714247.1:p.Phe260=
XM_005262935.4:c.1174_1183delinsTTTCCTTCTG XP_005262992.1:p.Phe392=
XM_017008037.1:c.778_787delinsTTTCCTTCTG XP_016863526.1:p.Phe260=
NM_207352.4:c.1174_1183delinsTTTCCTTCTG MANE Select NP_997235.3:p.Phe392=