Canonical Allele Identifier: CA287436036

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1266455
• ClinVar RCV Id: RCV001676278
• dbSNP Id: rs374828700
• gnomAD v2: 17-7124752-CAGGAACTGCCCTAGGT-C
• gnomAD v3: 17-7221433-CAGGAACTGCCCTAGGT-C
• gnomAD v4: 17-7221433-CAGGAACTGCCCTAGGT-C
• COSMIC: COSN1200794 ; COSN1200795 ; COSN1200796
• MyVariant Identifiers: chr17:g.7124753_7124768del (hg19) ; chr17:g.7221434_7221449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221434_7221449del , CM000679.2:g.7221434_7221449del	GRCh38
NC_000017.10:g.7124753_7124768del , CM000679.1:g.7124753_7124768del	GRCh37
NC_000017.9:g.7065477_7065492del	NCBI36
NG_007975.1:g.6601_6616del
NG_008391.2:g.3602_3617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-104_478-89del MANE Select	ENSP00000349297.5:n.478-104_478-89del
ENST00000322910.9:c.*433-104_*433-89del	ENSP00000325395.5:n.*433-104_*433-89del
ENST00000350303.9:c.412-104_412-89del	ENSP00000344152.5:n.412-104_412-89del
ENST00000356839.9:c.478-104_478-89del	ENSP00000349297.5:n.478-104_478-89del
ENST00000543245.6:c.547-104_547-89del	ENSP00000438689.2:n.547-104_547-89del
ENST00000577191.5:n.555-104_555-89del
ENST00000577433.5:n.686-104_686-89del
ENST00000577857.5:n.294-104_294-89del
ENST00000579286.5:n.659-104_659-89del
ENST00000579886.2:c.316-104_316-89del	ENSP00000463246.1:n.316-104_316-89del
ENST00000580365.1:n.209-104_209-89del
ENST00000581378.5:c.177-85_177-70del
ENST00000581562.5:n.524+376_524+391del
ENST00000582166.1:n.459-104_459-89del
ENST00000583312.5:c.478-104_478-89del	ENSP00000467920.1:n.478-104_478-89del
ENST00000583760.1:n.156_171del
NM_000018.3:c.478-104_478-89del	NP_000009.1:n.478-104_478-89del
NM_001033859.2:c.412-104_412-89del	NP_001029031.1:n.412-104_412-89del
NM_001270447.1:c.547-104_547-89del	NP_001257376.1:n.547-104_547-89del
NM_001270448.1:c.250-104_250-89del	NP_001257377.1:n.250-104_250-89del
XM_006721516.2:c.478-104_478-89del	XP_006721579.2:n.478-104_478-89del
XM_011523829.1:c.478-104_478-89del	XP_011522131.1:n.478-104_478-89del
XM_011523830.1:c.478-104_478-89del	XP_011522132.1:n.478-104_478-89del
XR_934021.1:n.585-104_585-89del
XR_934022.1:n.585-104_585-89del
XR_934023.1:n.585-104_585-89del
XM_006721516.3:c.478-104_478-89del	XP_006721579.2:n.478-104_478-89del
XM_011523829.2:c.478-104_478-89del	XP_011522131.1:n.478-104_478-89del
XM_011523830.2:c.478-104_478-89del	XP_011522132.1:n.478-104_478-89del
XM_024450741.1:c.478-104_478-89del	XP_024306509.1:n.478-104_478-89del
XR_934021.2:n.537-104_537-89del
XR_934022.2:n.537-104_537-89del
XR_934023.2:n.537-104_537-89del
NM_000018.4:c.478-104_478-89del MANE Select	NP_000009.1:n.478-104_478-89del
NM_001033859.3:c.412-104_412-89del	NP_001029031.1:n.412-104_412-89del
NM_001270447.2:c.547-104_547-89del	NP_001257376.1:n.547-104_547-89del
NM_001270448.2:c.250-104_250-89del	NP_001257377.1:n.250-104_250-89del