Canonical Allele Identifier: CA8338239

Gene: ACADVL

Linked Data

• dbSNP Id: rs758516674
• ExAC: 17:7128054 TGCCTGAGCCGCAGGGG / T
• gnomAD v2: 17-7128054-TGCCTGAGCCGCAGGGG-T
• MyVariant Identifiers: chr17:g.7128055_7128070del (hg19) ; chr17:g.7224736_7224751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224741_7224756del , CM000679.2:g.7224741_7224756del	GRCh38
NC_000017.10:g.7128060_7128075del , CM000679.1:g.7128060_7128075del	GRCh37
NC_000017.9:g.7068784_7068799del	NCBI36
NG_007975.1:g.9908_9923del
NG_008391.2:g.300_315del
NG_033038.1:g.14794_14809del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+27_1751+42del MANE Select	ENSP00000349297.5:n.1751+27_1751+42del
ENST00000322910.9:c.*1706+27_*1706+42del	ENSP00000325395.5:n.*1706+27_*1706+42del
ENST00000350303.9:c.1685+27_1685+42del	ENSP00000344152.5:n.1685+27_1685+42del
ENST00000356839.9:c.1751+27_1751+42del	ENSP00000349297.5:n.1751+27_1751+42del
ENST00000542255.6:c.563_578del
ENST00000543245.6:c.1820+27_1820+42del	ENSP00000438689.2:n.1820+27_1820+42del
ENST00000578033.1:n.109_124del
ENST00000578319.5:n.332+27_332+42del
ENST00000578711.1:n.1237_1252del
ENST00000578809.5:n.323+27_323+42del
ENST00000579425.5:n.867+27_867+42del
ENST00000579546.1:c.486+27_486+42del
ENST00000583074.5:n.326_341del
ENST00000583848.5:c.117+27_117+42del	ENSP00000466487.1:n.117+27_117+42del
ENST00000583850.5:n.522+27_522+42del
ENST00000583858.5:c.682+27_682+42del
ENST00000585203.6:n.942+27_942+42del
NM_000018.3:c.1751+27_1751+42del	NP_000009.1:n.1751+27_1751+42del
NM_001033859.2:c.1685+27_1685+42del	NP_001029031.1:n.1685+27_1685+42del
NM_001270447.1:c.1820+27_1820+42del	NP_001257376.1:n.1820+27_1820+42del
NM_001270448.1:c.1523+27_1523+42del	NP_001257377.1:n.1523+27_1523+42del
XM_006721516.2:c.1705_1720del	XP_006721579.2:p.Ser569GlyfsTer23
XM_011523829.1:c.1603_1618del	XP_011522131.1:p.Ser535GlyfsTer23
XM_011523830.1:c.1649+27_1649+42del	XP_011522132.1:n.1649+27_1649+42del
XR_934021.1:n.1854+27_1854+42del
XR_934022.1:n.1760+27_1760+42del
XR_934023.1:n.1714_1729del
XM_006721516.3:c.1705_1720del	XP_006721579.2:p.Ser569GlyfsTer23
XM_011523829.2:c.1603_1618del	XP_011522131.1:p.Ser535GlyfsTer23
XM_011523830.2:c.1649+27_1649+42del	XP_011522132.1:n.1649+27_1649+42del
XM_024450741.1:c.1739+27_1739+42del	XP_024306509.1:n.1739+27_1739+42del
XR_934021.2:n.1806+27_1806+42del
XR_934022.2:n.1712+27_1712+42del
XR_934023.2:n.1666_1681del
NM_000018.4:c.1751+27_1751+42del MANE Select	NP_000009.1:n.1751+27_1751+42del
NM_001033859.3:c.1685+27_1685+42del	NP_001029031.1:n.1685+27_1685+42del
NM_001270447.2:c.1820+27_1820+42del	NP_001257376.1:n.1820+27_1820+42del
NM_001270448.2:c.1523+27_1523+42del	NP_001257377.1:n.1523+27_1523+42del