Canonical Allele Identifier: CA16620601

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 422276
• ClinVar RCV Id: RCV000484410 ; RCV001851227
• dbSNP Id: rs1064795676

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224399_7224400delinsCA , CM000679.2:g.7224399_7224400delinsCA	GRCh38
NC_000017.10:g.7127718_7127719delinsCA , CM000679.1:g.7127718_7127719delinsCA	GRCh37
NC_000017.9:g.7068442_7068443delinsCA	NCBI36
NG_007975.1:g.9566_9567delinsCA
NG_008391.2:g.651_652delinsTG
NG_033038.1:g.15145_15146delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+6_1605+7delinsCA MANE Select	ENSP00000349297.5:n.1605+6_1605+7delinsCA
ENST00000322910.9:c.*1560+6_*1560+7delinsCA	ENSP00000325395.5:n.*1560+6_*1560+7delinsCA
ENST00000350303.9:c.1539+6_1539+7delinsCA	ENSP00000344152.5:n.1539+6_1539+7delinsCA
ENST00000356839.9:c.1605+6_1605+7delinsCA	ENSP00000349297.5:n.1605+6_1605+7delinsCA
ENST00000542255.6:c.463+6_463+7delinsCA
ENST00000543245.6:c.1674+6_1674+7delinsCA	ENSP00000438689.2:n.1674+6_1674+7delinsCA
ENST00000578319.5:n.106_107delinsCA
ENST00000578711.1:n.895_896delinsCA
ENST00000578809.5:n.177+6_177+7delinsCA
ENST00000579391.1:n.213+6_213+7delinsCA
ENST00000579425.5:n.721+6_721+7delinsCA
ENST00000579546.1:c.344+6_344+7delinsCA
ENST00000579894.5:n.392+6_392+7delinsCA
ENST00000582450.1:n.113+6_113+7delinsCA
ENST00000583074.5:n.226+6_226+7delinsCA
ENST00000583850.5:n.380+6_380+7delinsCA
ENST00000583858.5:c.536+6_536+7delinsCA
ENST00000585203.6:n.796+6_796+7delinsCA
NM_000018.3:c.1605+6_1605+7delinsCA	NP_000009.1:n.1605+6_1605+7delinsCA
NM_001033859.2:c.1539+6_1539+7delinsCA	NP_001029031.1:n.1539+6_1539+7delinsCA
NM_001270447.1:c.1674+6_1674+7delinsCA	NP_001257376.1:n.1674+6_1674+7delinsCA
NM_001270448.1:c.1377+6_1377+7delinsCA	NP_001257377.1:n.1377+6_1377+7delinsCA
XM_006721516.2:c.1605+6_1605+7delinsCA	XP_006721579.2:n.1605+6_1605+7delinsCA
XM_011523829.1:c.1507+6_1507+7delinsCA	XP_011522131.1:n.1507+6_1507+7delinsCA
XM_011523830.1:c.1507+6_1507+7delinsCA	XP_011522132.1:n.1507+6_1507+7delinsCA
XR_934021.1:n.1712+6_1712+7delinsCA
XR_934022.1:n.1614+6_1614+7delinsCA
XR_934023.1:n.1614+6_1614+7delinsCA
XM_006721516.3:c.1605+6_1605+7delinsCA	XP_006721579.2:n.1605+6_1605+7delinsCA
XM_011523829.2:c.1507+6_1507+7delinsCA	XP_011522131.1:n.1507+6_1507+7delinsCA
XM_011523830.2:c.1507+6_1507+7delinsCA	XP_011522132.1:n.1507+6_1507+7delinsCA
XM_024450741.1:c.1513_1514delinsCA	XP_024306509.1:p.Trp505Gln
XR_934021.2:n.1664+6_1664+7delinsCA
XR_934022.2:n.1566+6_1566+7delinsCA
XR_934023.2:n.1566+6_1566+7delinsCA
NM_000018.4:c.1605+6_1605+7delinsCA MANE Select	NP_000009.1:n.1605+6_1605+7delinsCA
NM_001033859.3:c.1539+6_1539+7delinsCA	NP_001029031.1:n.1539+6_1539+7delinsCA
NM_001270447.2:c.1674+6_1674+7delinsCA	NP_001257376.1:n.1674+6_1674+7delinsCA
NM_001270448.2:c.1377+6_1377+7delinsCA	NP_001257377.1:n.1377+6_1377+7delinsCA