Canonical Allele Identifier: CA624693649

Gene: ACADVL

Linked Data

• dbSNP Id: rs1217616413
• gnomAD v2: 17-7124870-TGGA-T
• gnomAD v4: 17-7221551-TGGA-T
• MyVariant Identifiers: chr17:g.7124871_7124873del (hg19) ; chr17:g.7221552_7221554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221553_7221555del , CM000679.2:g.7221553_7221555del	GRCh38
NC_000017.10:g.7124872_7124874del , CM000679.1:g.7124872_7124874del	GRCh37
NC_000017.9:g.7065596_7065598del	NCBI36
NG_007975.1:g.6720_6722del
NG_008391.2:g.3497_3499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.493_495del MANE Select	ENSP00000349297.5:p.Glu165del
ENST00000322910.9:c.*448_*450del	ENSP00000325395.5:n.*448_*450del
ENST00000350303.9:c.427_429del	ENSP00000344152.5:p.Glu143del
ENST00000356839.9:c.493_495del	ENSP00000349297.5:p.Glu165del
ENST00000543245.6:c.562_564del	ENSP00000438689.2:p.Glu188del
ENST00000577191.5:n.570_572del
ENST00000577433.5:n.701_703del
ENST00000577857.5:n.309_311del
ENST00000579286.5:n.674_676del
ENST00000579886.2:c.331_333del	ENSP00000463246.1:p.Glu111del
ENST00000580365.1:n.224_226del
ENST00000581378.5:c.211_213del
ENST00000581562.5:n.525-399_525-397del
ENST00000582166.1:n.474_476del
ENST00000583312.5:c.493_495del	ENSP00000467920.1:p.Glu165del
ENST00000583760.1:n.275_277del
NM_000018.3:c.493_495del	NP_000009.1:p.Glu165del
NM_001033859.2:c.427_429del	NP_001029031.1:p.Glu143del
NM_001270447.1:c.562_564del	NP_001257376.1:p.Glu188del
NM_001270448.1:c.265_267del	NP_001257377.1:p.Glu89del
XM_006721516.2:c.493_495del	XP_006721579.2:p.Glu165del
XM_011523829.1:c.493_495del	XP_011522131.1:p.Glu165del
XM_011523830.1:c.493_495del	XP_011522132.1:p.Glu165del
XR_934021.1:n.600_602del
XR_934022.1:n.600_602del
XR_934023.1:n.600_602del
XM_006721516.3:c.493_495del	XP_006721579.2:p.Glu165del
XM_011523829.2:c.493_495del	XP_011522131.1:p.Glu165del
XM_011523830.2:c.493_495del	XP_011522132.1:p.Glu165del
XM_024450741.1:c.493_495del	XP_024306509.1:p.Glu165del
XR_934021.2:n.552_554del
XR_934022.2:n.552_554del
XR_934023.2:n.552_554del
NM_000018.4:c.493_495del MANE Select	NP_000009.1:p.Glu165del
NM_001033859.3:c.427_429del	NP_001029031.1:p.Glu143del
NM_001270447.2:c.562_564del	NP_001257376.1:p.Glu188del
NM_001270448.2:c.265_267del	NP_001257377.1:p.Glu89del