Canonical Allele Identifier: CA287436033

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 676456
• ClinVar RCV Id: RCV000835892 ; RCV001548809
• dbSNP Id: rs370388543
• gnomAD v2: 17-7124750-GT-G
• gnomAD v3: 17-7221431-GT-G
• gnomAD v4: 17-7221431-GT-G
• MyVariant Identifiers: chr17:g.7124751del (hg19) ; chr17:g.7221432del (hg38)
• ERepo: CA287436033/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221432del , CM000679.2:g.7221432del	GRCh38
NC_000017.10:g.7124751del , CM000679.1:g.7124751del	GRCh37
NC_000017.9:g.7065475del	NCBI36
NG_007975.1:g.6599del
NG_008391.2:g.3619del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-106del MANE Select	ENSP00000349297.5:n.478-106del
ENST00000322910.9:c.*433-106del	ENSP00000325395.5:n.*433-106del
ENST00000350303.9:c.412-106del	ENSP00000344152.5:n.412-106del
ENST00000356839.9:c.478-106del	ENSP00000349297.5:n.478-106del
ENST00000543245.6:c.547-106del	ENSP00000438689.2:n.547-106del
ENST00000577191.5:n.555-106del
ENST00000577433.5:n.686-106del
ENST00000577857.5:n.294-106del
ENST00000579286.5:n.659-106del
ENST00000579886.2:c.316-106del	ENSP00000463246.1:n.316-106del
ENST00000580365.1:n.209-106del
ENST00000581378.5:c.177-87del
ENST00000581562.5:n.524+374del
ENST00000582166.1:n.459-106del
ENST00000583312.5:c.478-106del	ENSP00000467920.1:n.478-106del
ENST00000583760.1:n.154del
NM_000018.3:c.478-106del	NP_000009.1:n.478-106del
NM_001033859.2:c.412-106del	NP_001029031.1:n.412-106del
NM_001270447.1:c.547-106del	NP_001257376.1:n.547-106del
NM_001270448.1:c.250-106del	NP_001257377.1:n.250-106del
XM_006721516.2:c.478-106del	XP_006721579.2:n.478-106del
XM_011523829.1:c.478-106del	XP_011522131.1:n.478-106del
XM_011523830.1:c.478-106del	XP_011522132.1:n.478-106del
XR_934021.1:n.585-106del
XR_934022.1:n.585-106del
XR_934023.1:n.585-106del
XM_006721516.3:c.478-106del	XP_006721579.2:n.478-106del
XM_011523829.2:c.478-106del	XP_011522131.1:n.478-106del
XM_011523830.2:c.478-106del	XP_011522132.1:n.478-106del
XM_024450741.1:c.478-106del	XP_024306509.1:n.478-106del
XR_934021.2:n.537-106del
XR_934022.2:n.537-106del
XR_934023.2:n.537-106del
NM_000018.4:c.478-106del MANE Select	NP_000009.1:n.478-106del
NM_001033859.3:c.412-106del	NP_001029031.1:n.412-106del
NM_001270447.2:c.547-106del	NP_001257376.1:n.547-106del
NM_001270448.2:c.250-106del	NP_001257377.1:n.250-106del