Canonical Allele Identifier: CA287436000

Gene: ACADVL

Linked Data

• dbSNP Id: rs35999860
• gnomAD v2: 17-7124739-CACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGA-C
• gnomAD v3: 17-7221420-CACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGA-C
• gnomAD v4: 17-7221420-CACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGA-C
• MyVariant Identifiers: chr17:g.7124740_7124773del (hg19) ; chr17:g.7221421_7221454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221429_7221462del , CM000679.2:g.7221429_7221462del	GRCh38
NC_000017.10:g.7124748_7124781del , CM000679.1:g.7124748_7124781del	GRCh37
NC_000017.9:g.7065472_7065505del	NCBI36
NG_007975.1:g.6596_6629del
NG_008391.2:g.3597_3630del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-109_478-76del MANE Select	ENSP00000349297.5:n.478-109_478-76del
ENST00000322910.9:c.*433-109_*433-76del	ENSP00000325395.5:n.*433-109_*433-76del
ENST00000350303.9:c.412-109_412-76del	ENSP00000344152.5:n.412-109_412-76del
ENST00000356839.9:c.478-109_478-76del	ENSP00000349297.5:n.478-109_478-76del
ENST00000543245.6:c.547-109_547-76del	ENSP00000438689.2:n.547-109_547-76del
ENST00000577191.5:n.555-109_555-76del
ENST00000577433.5:n.686-109_686-76del
ENST00000577857.5:n.294-109_294-76del
ENST00000579286.5:n.659-109_659-76del
ENST00000579886.2:c.316-109_316-76del	ENSP00000463246.1:n.316-109_316-76del
ENST00000580365.1:n.209-109_209-76del
ENST00000581378.5:c.177-90_177-57del
ENST00000581562.5:n.524+371_524+404del
ENST00000582166.1:n.459-109_459-76del
ENST00000583312.5:c.478-109_478-76del	ENSP00000467920.1:n.478-109_478-76del
ENST00000583760.1:n.151_184del
NM_000018.3:c.478-109_478-76del	NP_000009.1:n.478-109_478-76del
NM_001033859.2:c.412-109_412-76del	NP_001029031.1:n.412-109_412-76del
NM_001270447.1:c.547-109_547-76del	NP_001257376.1:n.547-109_547-76del
NM_001270448.1:c.250-109_250-76del	NP_001257377.1:n.250-109_250-76del
XM_006721516.2:c.478-109_478-76del	XP_006721579.2:n.478-109_478-76del
XM_011523829.1:c.478-109_478-76del	XP_011522131.1:n.478-109_478-76del
XM_011523830.1:c.478-109_478-76del	XP_011522132.1:n.478-109_478-76del
XR_934021.1:n.585-109_585-76del
XR_934022.1:n.585-109_585-76del
XR_934023.1:n.585-109_585-76del
XM_006721516.3:c.478-109_478-76del	XP_006721579.2:n.478-109_478-76del
XM_011523829.2:c.478-109_478-76del	XP_011522131.1:n.478-109_478-76del
XM_011523830.2:c.478-109_478-76del	XP_011522132.1:n.478-109_478-76del
XM_024450741.1:c.478-109_478-76del	XP_024306509.1:n.478-109_478-76del
XR_934021.2:n.537-109_537-76del
XR_934022.2:n.537-109_537-76del
XR_934023.2:n.537-109_537-76del
NM_000018.4:c.478-109_478-76del MANE Select	NP_000009.1:n.478-109_478-76del
NM_001033859.3:c.412-109_412-76del	NP_001029031.1:n.412-109_412-76del
NM_001270447.2:c.547-109_547-76del	NP_001257376.1:n.547-109_547-76del
NM_001270448.2:c.250-109_250-76del	NP_001257377.1:n.250-109_250-76del