Canonical Allele Identifier: CA624860698

Gene: ACADVL

Linked Data

• dbSNP Id: rs1396789388
• gnomAD v2: 17-7127262-TATA-T
• gnomAD v4: 17-7223943-TATA-T
• MyVariant Identifiers: chr17:g.7127263_7127265del (hg19) ; chr17:g.7223944_7223946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223946_7223948del , CM000679.2:g.7223946_7223948del	GRCh38
NC_000017.10:g.7127265_7127267del , CM000679.1:g.7127265_7127267del	GRCh37
NC_000017.9:g.7067989_7067991del	NCBI36
NG_007975.1:g.9113_9115del
NG_008391.2:g.1105_1107del
NG_033038.1:g.15599_15601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-22_1333-20del MANE Select	ENSP00000349297.5:n.1333-22_1333-20del
ENST00000322910.9:c.*1288-22_*1288-20del	ENSP00000325395.5:n.*1288-22_*1288-20del
ENST00000350303.9:c.1267-22_1267-20del	ENSP00000344152.5:n.1267-22_1267-20del
ENST00000356839.9:c.1333-22_1333-20del	ENSP00000349297.5:n.1333-22_1333-20del
ENST00000542255.6:c.191-22_191-20del
ENST00000543245.6:c.1402-22_1402-20del	ENSP00000438689.2:n.1402-22_1402-20del
ENST00000578711.1:n.442_444del
ENST00000579425.5:n.427_429del
ENST00000579546.1:c.170-22_170-20del
ENST00000579894.5:n.22_24del
ENST00000583074.5:n.52-22_52-20del
ENST00000583850.5:n.108-22_108-20del
ENST00000583858.5:c.362-22_362-20del
ENST00000585203.6:n.524-22_524-20del
NM_000018.3:c.1333-22_1333-20del	NP_000009.1:n.1333-22_1333-20del
NM_001033859.2:c.1267-22_1267-20del	NP_001029031.1:n.1267-22_1267-20del
NM_001270447.1:c.1402-22_1402-20del	NP_001257376.1:n.1402-22_1402-20del
NM_001270448.1:c.1105-22_1105-20del	NP_001257377.1:n.1105-22_1105-20del
XM_006721516.2:c.1333-22_1333-20del	XP_006721579.2:n.1333-22_1333-20del
XM_011523829.1:c.1333-22_1333-20del	XP_011522131.1:n.1333-22_1333-20del
XM_011523830.1:c.1333-22_1333-20del	XP_011522132.1:n.1333-22_1333-20del
XR_934021.1:n.1440-22_1440-20del
XR_934022.1:n.1440-22_1440-20del
XR_934023.1:n.1440-22_1440-20del
XM_006721516.3:c.1333-22_1333-20del	XP_006721579.2:n.1333-22_1333-20del
XM_011523829.2:c.1333-22_1333-20del	XP_011522131.1:n.1333-22_1333-20del
XM_011523830.2:c.1333-22_1333-20del	XP_011522132.1:n.1333-22_1333-20del
XM_024450741.1:c.1333-22_1333-20del	XP_024306509.1:n.1333-22_1333-20del
XR_934021.2:n.1392-22_1392-20del
XR_934022.2:n.1392-22_1392-20del
XR_934023.2:n.1392-22_1392-20del
NM_000018.4:c.1333-22_1333-20del MANE Select	NP_000009.1:n.1333-22_1333-20del
NM_001033859.3:c.1267-22_1267-20del	NP_001029031.1:n.1267-22_1267-20del
NM_001270447.2:c.1402-22_1402-20del	NP_001257376.1:n.1402-22_1402-20del
NM_001270448.2:c.1105-22_1105-20del	NP_001257377.1:n.1105-22_1105-20del