Canonical Allele Identifier: CA8338203

Gene: ACADVL

Linked Data

• dbSNP Id: rs764481739
• ExAC: 17:7127872 G / GT
• gnomAD v2: 17-7127872-G-GT
• gnomAD v4: 17-7224553-G-GT
• MyVariant Identifiers: chr17:g.7127872_7127873insT (hg19) ; chr17:g.7224553_7224554insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224554dup , CM000679.2:g.7224554dup	GRCh38
NC_000017.10:g.7127873dup , CM000679.1:g.7127873dup	GRCh37
NC_000017.9:g.7068597dup	NCBI36
NG_007975.1:g.9721dup
NG_008391.2:g.497dup
NG_033038.1:g.14991dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+2dup MANE Select	ENSP00000349297.5:n.1678+2dup
ENST00000322910.9:c.*1633+2dup	ENSP00000325395.5:n.*1633+2dup
ENST00000350303.9:c.1612+2dup	ENSP00000344152.5:n.1612+2dup
ENST00000356839.9:c.1678+2dup	ENSP00000349297.5:n.1678+2dup
ENST00000542255.6:c.536+2dup
ENST00000543245.6:c.1747+2dup	ENSP00000438689.2:n.1747+2dup
ENST00000578319.5:n.259+2dup
ENST00000578711.1:n.1050dup
ENST00000578809.5:n.250+2dup
ENST00000579391.1:n.284dup
ENST00000579425.5:n.794+2dup
ENST00000579546.1:c.413+2dup
ENST00000582450.1:n.188dup
ENST00000583074.5:n.299+2dup
ENST00000583848.5:c.64+2dup	ENSP00000466487.1:n.64+2dup
ENST00000583850.5:n.449+2dup
ENST00000583858.5:c.609+2dup
ENST00000585203.6:n.869+2dup
NM_000018.3:c.1678+2dup	NP_000009.1:n.1678+2dup
NM_001033859.2:c.1612+2dup	NP_001029031.1:n.1612+2dup
NM_001270447.1:c.1747+2dup	NP_001257376.1:n.1747+2dup
NM_001270448.1:c.1450+2dup	NP_001257377.1:n.1450+2dup
XM_006721516.2:c.1678+2dup	XP_006721579.2:n.1678+2dup
XM_011523829.1:c.1576+2dup	XP_011522131.1:n.1576+2dup
XM_011523830.1:c.1576+2dup	XP_011522132.1:n.1576+2dup
XR_934021.1:n.1781+2dup
XR_934022.1:n.1687+2dup
XR_934023.1:n.1687+2dup
XM_006721516.3:c.1678+2dup	XP_006721579.2:n.1678+2dup
XM_011523829.2:c.1576+2dup	XP_011522131.1:n.1576+2dup
XM_011523830.2:c.1576+2dup	XP_011522132.1:n.1576+2dup
XM_024450741.1:c.1666+2dup	XP_024306509.1:n.1666+2dup
XR_934021.2:n.1733+2dup
XR_934022.2:n.1639+2dup
XR_934023.2:n.1639+2dup
NM_000018.4:c.1678+2dup MANE Select	NP_000009.1:n.1678+2dup
NM_001033859.3:c.1612+2dup	NP_001029031.1:n.1612+2dup
NM_001270447.2:c.1747+2dup	NP_001257376.1:n.1747+2dup
NM_001270448.2:c.1450+2dup	NP_001257377.1:n.1450+2dup