Canonical Allele Identifier: CA624693628

Gene: ACADVL

Linked Data

• dbSNP Id: rs1221059077
• gnomAD v2: 17-7124661-AAGAC-A
• gnomAD v3: 17-7221342-AAGAC-A
• gnomAD v4: 17-7221342-AAGAC-A
• MyVariant Identifiers: chr17:g.7124662_7124665del (hg19) ; chr17:g.7221343_7221346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221347_7221350del , CM000679.2:g.7221347_7221350del	GRCh38
NC_000017.10:g.7124666_7124669del , CM000679.1:g.7124666_7124669del	GRCh37
NC_000017.9:g.7065390_7065393del	NCBI36
NG_007975.1:g.6514_6517del
NG_008391.2:g.3705_3708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-191_478-188del MANE Select	ENSP00000349297.5:n.478-191_478-188del
ENST00000322910.9:c.*433-191_*433-188del	ENSP00000325395.5:n.*433-191_*433-188del
ENST00000350303.9:c.412-191_412-188del	ENSP00000344152.5:n.412-191_412-188del
ENST00000356839.9:c.478-191_478-188del	ENSP00000349297.5:n.478-191_478-188del
ENST00000543245.6:c.547-191_547-188del	ENSP00000438689.2:n.547-191_547-188del
ENST00000577191.5:n.555-191_555-188del
ENST00000577433.5:n.686-191_686-188del
ENST00000577857.5:n.294-191_294-188del
ENST00000579286.5:n.659-191_659-188del
ENST00000579886.2:c.316-191_316-188del	ENSP00000463246.1:n.316-191_316-188del
ENST00000580365.1:n.209-191_209-188del
ENST00000581378.5:c.177-172_177-169del
ENST00000581562.5:n.524+289_524+292del
ENST00000582166.1:n.459-191_459-188del
ENST00000583312.5:c.478-191_478-188del	ENSP00000467920.1:n.478-191_478-188del
ENST00000583760.1:n.69_72del
NM_000018.3:c.478-191_478-188del	NP_000009.1:n.478-191_478-188del
NM_001033859.2:c.412-191_412-188del	NP_001029031.1:n.412-191_412-188del
NM_001270447.1:c.547-191_547-188del	NP_001257376.1:n.547-191_547-188del
NM_001270448.1:c.250-191_250-188del	NP_001257377.1:n.250-191_250-188del
XM_006721516.2:c.478-191_478-188del	XP_006721579.2:n.478-191_478-188del
XM_011523829.1:c.478-191_478-188del	XP_011522131.1:n.478-191_478-188del
XM_011523830.1:c.478-191_478-188del	XP_011522132.1:n.478-191_478-188del
XR_934021.1:n.585-191_585-188del
XR_934022.1:n.585-191_585-188del
XR_934023.1:n.585-191_585-188del
XM_006721516.3:c.478-191_478-188del	XP_006721579.2:n.478-191_478-188del
XM_011523829.2:c.478-191_478-188del	XP_011522131.1:n.478-191_478-188del
XM_011523830.2:c.478-191_478-188del	XP_011522132.1:n.478-191_478-188del
XM_024450741.1:c.478-191_478-188del	XP_024306509.1:n.478-191_478-188del
XR_934021.2:n.537-191_537-188del
XR_934022.2:n.537-191_537-188del
XR_934023.2:n.537-191_537-188del
NM_000018.4:c.478-191_478-188del MANE Select	NP_000009.1:n.478-191_478-188del
NM_001033859.3:c.412-191_412-188del	NP_001029031.1:n.412-191_412-188del
NM_001270447.2:c.547-191_547-188del	NP_001257376.1:n.547-191_547-188del
NM_001270448.2:c.250-191_250-188del	NP_001257377.1:n.250-191_250-188del