Canonical Allele Identifier: CA2635784189
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224371_7224372dup , CM000679.2:g.7224371_7224372dup GRCh38
NC_000017.10:g.7127690_7127691dup , CM000679.1:g.7127690_7127691dup GRCh37
NC_000017.9:g.7068414_7068415dup NCBI36
NG_007975.1:g.9538_9539dup
NG_008391.2:g.680_681dup
NG_033038.1:g.15174_15175dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1583_1584dup MANE Select ENSP00000349297.5:p.Leu529SerfsTer2
ENST00000322910.9:c.*1538_*1539dup ENSP00000325395.5:n.*1538_*1539dup
ENST00000350303.9:c.1517_1518dup ENSP00000344152.5:p.Leu507SerfsTer2
ENST00000356839.9:c.1583_1584dup ENSP00000349297.5:p.Leu529SerfsTer2
ENST00000542255.6:c.441_442dup
ENST00000543245.6:c.1652_1653dup ENSP00000438689.2:p.Leu552SerfsTer2
ENST00000578319.5:n.78_79dup
ENST00000578711.1:n.867_868dup
ENST00000578809.5:n.155_156dup
ENST00000579391.1:n.191_192dup
ENST00000579425.5:n.699_700dup
ENST00000579546.1:c.322_323dup
ENST00000579894.5:n.370_371dup
ENST00000582450.1:n.91_92dup
ENST00000583074.5:n.204_205dup
ENST00000583850.5:n.358_359dup
ENST00000583858.5:c.514_515dup
ENST00000585203.6:n.774_775dup
NM_000018.3:c.1583_1584dup NP_000009.1:p.Leu529SerfsTer2
NM_001033859.2:c.1517_1518dup NP_001029031.1:p.Leu507SerfsTer2
NM_001270447.1:c.1652_1653dup NP_001257376.1:p.Leu552SerfsTer2
NM_001270448.1:c.1355_1356dup NP_001257377.1:p.Leu453SerfsTer2
XM_006721516.2:c.1583_1584dup XP_006721579.2:p.Leu529SerfsTer2
XM_011523829.1:c.1485_1486dup XP_011522131.1:p.Val496GlufsTer23
XM_011523830.1:c.1485_1486dup XP_011522132.1:p.Val496GlufsTer23
XR_934021.1:n.1690_1691dup
XR_934022.1:n.1592_1593dup
XR_934023.1:n.1592_1593dup
XM_006721516.3:c.1583_1584dup XP_006721579.2:p.Leu529SerfsTer2
XM_011523829.2:c.1485_1486dup XP_011522131.1:p.Val496GlufsTer23
XM_011523830.2:c.1485_1486dup XP_011522132.1:p.Val496GlufsTer23
XM_024450741.1:c.1485_1486dup XP_024306509.1:p.Val496GlufsTer28
XR_934021.2:n.1642_1643dup
XR_934022.2:n.1544_1545dup
XR_934023.2:n.1544_1545dup
NM_000018.4:c.1583_1584dup MANE Select NP_000009.1:p.Leu529SerfsTer2
NM_001033859.3:c.1517_1518dup NP_001029031.1:p.Leu507SerfsTer2
NM_001270447.2:c.1652_1653dup NP_001257376.1:p.Leu552SerfsTer2
NM_001270448.2:c.1355_1356dup NP_001257377.1:p.Leu453SerfsTer2