Canonical Allele Identifier: CA2245714178

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071378835

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224432_7224433del , CM000679.2:g.7224432_7224433del	GRCh38
NC_000017.10:g.7127751_7127752del , CM000679.1:g.7127751_7127752del	GRCh37
NC_000017.9:g.7068475_7068476del	NCBI36
NG_007975.1:g.9599_9600del
NG_008391.2:g.618_619del
NG_033038.1:g.15112_15113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+39_1605+40del MANE Select	ENSP00000349297.5:n.1605+39_1605+40del
ENST00000322910.9:c.*1560+39_*1560+40del	ENSP00000325395.5:n.*1560+39_*1560+40del
ENST00000350303.9:c.1539+39_1539+40del	ENSP00000344152.5:n.1539+39_1539+40del
ENST00000356839.9:c.1605+39_1605+40del	ENSP00000349297.5:n.1605+39_1605+40del
ENST00000542255.6:c.463+39_463+40del
ENST00000543245.6:c.1674+39_1674+40del	ENSP00000438689.2:n.1674+39_1674+40del
ENST00000578319.5:n.139_140del
ENST00000578711.1:n.928_929del
ENST00000578809.5:n.177+39_177+40del
ENST00000579391.1:n.213+39_213+40del
ENST00000579425.5:n.721+39_721+40del
ENST00000579546.1:c.344+39_344+40del
ENST00000579894.5:n.392+39_392+40del
ENST00000582450.1:n.113+39_113+40del
ENST00000583074.5:n.226+39_226+40del
ENST00000583850.5:n.380+39_380+40del
ENST00000583858.5:c.536+39_536+40del
ENST00000585203.6:n.796+39_796+40del
NM_000018.3:c.1605+39_1605+40del	NP_000009.1:n.1605+39_1605+40del
NM_001033859.2:c.1539+39_1539+40del	NP_001029031.1:n.1539+39_1539+40del
NM_001270447.1:c.1674+39_1674+40del	NP_001257376.1:n.1674+39_1674+40del
NM_001270448.1:c.1377+39_1377+40del	NP_001257377.1:n.1377+39_1377+40del
XM_006721516.2:c.1605+39_1605+40del	XP_006721579.2:n.1605+39_1605+40del
XM_011523829.1:c.1507+39_1507+40del	XP_011522131.1:n.1507+39_1507+40del
XM_011523830.1:c.1507+39_1507+40del	XP_011522132.1:n.1507+39_1507+40del
XR_934021.1:n.1712+39_1712+40del
XR_934022.1:n.1614+39_1614+40del
XR_934023.1:n.1614+39_1614+40del
XM_006721516.3:c.1605+39_1605+40del	XP_006721579.2:n.1605+39_1605+40del
XM_011523829.2:c.1507+39_1507+40del	XP_011522131.1:n.1507+39_1507+40del
XM_011523830.2:c.1507+39_1507+40del	XP_011522132.1:n.1507+39_1507+40del
XM_024450741.1:c.1546_1547del	XP_024306509.1:p.Leu516AlafsTer15
XR_934021.2:n.1664+39_1664+40del
XR_934022.2:n.1566+39_1566+40del
XR_934023.2:n.1566+39_1566+40del
NM_000018.4:c.1605+39_1605+40del MANE Select	NP_000009.1:n.1605+39_1605+40del
NM_001033859.3:c.1539+39_1539+40del	NP_001029031.1:n.1539+39_1539+40del
NM_001270447.2:c.1674+39_1674+40del	NP_001257376.1:n.1674+39_1674+40del
NM_001270448.2:c.1377+39_1377+40del	NP_001257377.1:n.1377+39_1377+40del