Canonical Allele Identifier: CA913013642
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126168_7126171del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222849_7222852del , CM000679.2:g.7222849_7222852del GRCh38
NC_000017.10:g.7126168_7126171del , CM000679.1:g.7126168_7126171del GRCh37
NC_000017.9:g.7066892_7066895del NCBI36
NG_007975.1:g.8016_8019del
NG_008391.2:g.2199_2202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1061_1064del MANE Select ENSP00000349297.5:p.Gly354AlafsTer6
ENST00000322910.9:c.*1016_*1019del ENSP00000325395.5:n.*1016_*1019del
ENST00000350303.9:c.995_998del ENSP00000344152.5:p.Gly332AlafsTer6
ENST00000356839.9:c.1061_1064del ENSP00000349297.5:p.Gly354AlafsTer6
ENST00000543245.6:c.1130_1133del ENSP00000438689.2:p.Gly377AlafsTer6
ENST00000578824.5:n.210_213del
ENST00000582379.1:n.445_448del
ENST00000583858.5:c.90_93del
ENST00000585203.6:n.2_5del
NM_000018.3:c.1061_1064del NP_000009.1:p.Gly354AlafsTer6
NM_001033859.2:c.995_998del NP_001029031.1:p.Gly332AlafsTer6
NM_001270447.1:c.1130_1133del NP_001257376.1:p.Gly377AlafsTer6
NM_001270448.1:c.833_836del NP_001257377.1:p.Gly278AlafsTer6
XM_006721516.2:c.1061_1064del XP_006721579.2:p.Gly354AlafsTer6
XM_011523829.1:c.1061_1064del XP_011522131.1:p.Gly354AlafsTer6
XM_011523830.1:c.1061_1064del XP_011522132.1:p.Gly354AlafsTer6
XR_934021.1:n.1168_1171del
XR_934022.1:n.1168_1171del
XR_934023.1:n.1168_1171del
XM_006721516.3:c.1061_1064del XP_006721579.2:p.Gly354AlafsTer6
XM_011523829.2:c.1061_1064del XP_011522131.1:p.Gly354AlafsTer6
XM_011523830.2:c.1061_1064del XP_011522132.1:p.Gly354AlafsTer6
XM_024450741.1:c.1061_1064del XP_024306509.1:p.Gly354AlafsTer6
XR_934021.2:n.1120_1123del
XR_934022.2:n.1120_1123del
XR_934023.2:n.1120_1123del
NM_000018.4:c.1061_1064del MANE Select NP_000009.1:p.Gly354AlafsTer6
NM_001033859.3:c.995_998del NP_001029031.1:p.Gly332AlafsTer6
NM_001270447.2:c.1130_1133del NP_001257376.1:p.Gly377AlafsTer6
NM_001270448.2:c.833_836del NP_001257377.1:p.Gly278AlafsTer6
Search 100 bp 5'
Search 100 bp 3'