Canonical Allele Identifier: CA2245716594

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225093_7225094delinsTC , CM000679.2:g.7225093_7225094delinsTC	GRCh38
NC_000017.10:g.7128412_7128413delinsTC , CM000679.1:g.7128412_7128413delinsTC	GRCh37
NC_000017.9:g.7069136_7069137delinsTC	NCBI36
NG_007975.1:g.10260_10261delinsTC
NG_033038.1:g.14451_14452delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1964_1965delinsTC MANE Select	ENSP00000349297.5:p.Phe655=
ENST00000322910.9:c.*1919_*1920delinsTC	ENSP00000325395.5:n.*1919_*1920delinsTC
ENST00000350303.9:c.1898_1899delinsTC	ENSP00000344152.5:p.Phe633=
ENST00000356839.9:c.1964_1965delinsTC	ENSP00000349297.5:p.Phe655=
ENST00000542255.6:c.843_844delinsTC
ENST00000543245.6:c.2033_2034delinsTC	ENSP00000438689.2:p.Phe678=
ENST00000578033.1:n.389_390delinsTC
ENST00000578319.5:n.545_546delinsTC
ENST00000578711.1:n.1589_1590delinsTC
ENST00000578809.5:n.536_537delinsTC
ENST00000579425.5:n.1080_1081delinsTC
ENST00000583848.5:c.330_331delinsTC	ENSP00000466487.1:n.330_331delinsTC
ENST00000583850.5:n.735_736delinsTC
ENST00000583858.5:c.895_896delinsTC
NM_000018.3:c.1964_1965delinsTC	NP_000009.1:p.Phe655=
NM_001033859.2:c.1898_1899delinsTC	NP_001029031.1:p.Phe633=
NM_001270447.1:c.2033_2034delinsTC	NP_001257376.1:p.Phe678=
NM_001270448.1:c.1736_1737delinsTC	NP_001257377.1:p.Phe579=
XM_006721516.2:c.1985_1986delinsTC	XP_006721579.2:p.Phe662=
XM_011523829.1:c.1883_1884delinsTC	XP_011522131.1:p.Phe628=
XM_011523830.1:c.1862_1863delinsTC	XP_011522132.1:p.Phe621=
XR_934021.1:n.2067_2068delinsTC
XR_934022.1:n.1973_1974delinsTC
XR_934023.1:n.1994_1995delinsTC
XM_006721516.3:c.1985_1986delinsTC	XP_006721579.2:p.Phe662=
XM_011523829.2:c.1883_1884delinsTC	XP_011522131.1:p.Phe628=
XM_011523830.2:c.1862_1863delinsTC	XP_011522132.1:p.Phe621=
XM_024450741.1:c.1952_1953delinsTC	XP_024306509.1:p.Phe651=
XR_934021.2:n.2019_2020delinsTC
XR_934022.2:n.1925_1926delinsTC
XR_934023.2:n.1946_1947delinsTC
NM_000018.4:c.1964_1965delinsTC MANE Select	NP_000009.1:p.Phe655=
NM_001033859.3:c.1898_1899delinsTC	NP_001029031.1:p.Phe633=
NM_001270447.2:c.2033_2034delinsTC	NP_001257376.1:p.Phe678=
NM_001270448.2:c.1736_1737delinsTC	NP_001257377.1:p.Phe579=