Canonical Allele Identifier: CA2635784039
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224324_7224325dup , CM000679.2:g.7224324_7224325dup GRCh38
NC_000017.10:g.7127643_7127644dup , CM000679.1:g.7127643_7127644dup GRCh37
NC_000017.9:g.7068367_7068368dup NCBI36
NG_007975.1:g.9491_9492dup
NG_008391.2:g.727_728dup
NG_033038.1:g.15221_15222dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1536_1537dup MANE Select ENSP00000349297.5:p.Ala513GlyfsTer8
ENST00000322910.9:c.*1491_*1492dup ENSP00000325395.5:n.*1491_*1492dup
ENST00000350303.9:c.1470_1471dup ENSP00000344152.5:p.Ala491GlyfsTer8
ENST00000356839.9:c.1536_1537dup ENSP00000349297.5:p.Ala513GlyfsTer8
ENST00000542255.6:c.394_395dup
ENST00000543245.6:c.1605_1606dup ENSP00000438689.2:p.Ala536GlyfsTer8
ENST00000578319.5:n.31_32dup
ENST00000578711.1:n.820_821dup
ENST00000578809.5:n.108_109dup
ENST00000579391.1:n.144_145dup
ENST00000579425.5:n.652_653dup
ENST00000579546.1:c.275_276dup
ENST00000579894.5:n.323_324dup
ENST00000582450.1:n.44_45dup
ENST00000583074.5:n.157_158dup
ENST00000583850.5:n.311_312dup
ENST00000583858.5:c.467_468dup
ENST00000585203.6:n.727_728dup
NM_000018.3:c.1536_1537dup NP_000009.1:p.Ala513GlyfsTer8
NM_001033859.2:c.1470_1471dup NP_001029031.1:p.Ala491GlyfsTer8
NM_001270447.1:c.1605_1606dup NP_001257376.1:p.Ala536GlyfsTer8
NM_001270448.1:c.1308_1309dup NP_001257377.1:p.Ala437GlyfsTer8
XM_006721516.2:c.1536_1537dup XP_006721579.2:p.Ala513GlyfsTer8
XM_011523829.1:c.1438_1439dup XP_011522131.1:p.Arg481AlafsTer?
XM_011523830.1:c.1438_1439dup XP_011522132.1:p.Arg481AlafsTer?
XR_934021.1:n.1643_1644dup
XR_934022.1:n.1545_1546dup
XR_934023.1:n.1545_1546dup
XM_006721516.3:c.1536_1537dup XP_006721579.2:p.Ala513GlyfsTer8
XM_011523829.2:c.1438_1439dup XP_011522131.1:p.Arg481AlafsTer?
XM_011523830.2:c.1438_1439dup XP_011522132.1:p.Arg481AlafsTer?
XM_024450741.1:c.1438_1439dup XP_024306509.1:p.Arg481AlafsTer?
XR_934021.2:n.1595_1596dup
XR_934022.2:n.1497_1498dup
XR_934023.2:n.1497_1498dup
NM_000018.4:c.1536_1537dup MANE Select NP_000009.1:p.Ala513GlyfsTer8
NM_001033859.3:c.1470_1471dup NP_001029031.1:p.Ala491GlyfsTer8
NM_001270447.2:c.1605_1606dup NP_001257376.1:p.Ala536GlyfsTer8
NM_001270448.2:c.1308_1309dup NP_001257377.1:p.Ala437GlyfsTer8