Canonical Allele Identifier: CA2635786366

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224644-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224644_7224645insC , CM000679.2:g.7224644_7224645insC	GRCh38
NC_000017.10:g.7127963_7127964insC , CM000679.1:g.7127963_7127964insC	GRCh37
NC_000017.9:g.7068687_7068688insC	NCBI36
NG_007975.1:g.9811_9812insC
NG_008391.2:g.406_407insG
NG_033038.1:g.14900_14901insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1681_1682insC MANE Select	ENSP00000349297.5:p.Glu561AlafsTer?
ENST00000322910.9:c.*1636_*1637insC	ENSP00000325395.5:n.*1636_*1637insC
ENST00000350303.9:c.1615_1616insC	ENSP00000344152.5:p.Glu539AlafsTer?
ENST00000356839.9:c.1681_1682insC	ENSP00000349297.5:p.Glu561AlafsTer?
ENST00000542255.6:c.537-71_537-70insC
ENST00000543245.6:c.1750_1751insC	ENSP00000438689.2:p.Glu584AlafsTer?
ENST00000578033.1:n.12_13insC
ENST00000578319.5:n.262_263insC
ENST00000578711.1:n.1140_1141insC
ENST00000578809.5:n.253_254insC
ENST00000579425.5:n.797_798insC
ENST00000579546.1:c.416_417insC
ENST00000582450.1:n.278_279insC
ENST00000583074.5:n.300-71_300-70insC
ENST00000583848.5:c.65-18_65-17insC	ENSP00000466487.1:n.65-18_65-17insC
ENST00000583850.5:n.452_453insC
ENST00000583858.5:c.612_613insC
ENST00000585203.6:n.872_873insC
NM_000018.3:c.1681_1682insC	NP_000009.1:p.Glu561AlafsTer?
NM_001033859.2:c.1615_1616insC	NP_001029031.1:p.Glu539AlafsTer?
NM_001270447.1:c.1750_1751insC	NP_001257376.1:p.Glu584AlafsTer?
NM_001270448.1:c.1453_1454insC	NP_001257377.1:p.Glu485AlafsTer?
XM_006721516.2:c.1679-71_1679-70insC	XP_006721579.2:n.1679-71_1679-70insC
XM_011523829.1:c.1577-71_1577-70insC	XP_011522131.1:n.1577-71_1577-70insC
XM_011523830.1:c.1579_1580insC	XP_011522132.1:p.Glu527AlafsTer?
XR_934021.1:n.1784_1785insC
XR_934022.1:n.1690_1691insC
XR_934023.1:n.1688-71_1688-70insC
XM_006721516.3:c.1679-71_1679-70insC	XP_006721579.2:n.1679-71_1679-70insC
XM_011523829.2:c.1577-71_1577-70insC	XP_011522131.1:n.1577-71_1577-70insC
XM_011523830.2:c.1579_1580insC	XP_011522132.1:p.Glu527AlafsTer?
XM_024450741.1:c.1669_1670insC	XP_024306509.1:p.Glu557AlafsTer?
XR_934021.2:n.1736_1737insC
XR_934022.2:n.1642_1643insC
XR_934023.2:n.1640-71_1640-70insC
NM_000018.4:c.1681_1682insC MANE Select	NP_000009.1:p.Glu561AlafsTer?
NM_001033859.3:c.1615_1616insC	NP_001029031.1:p.Glu539AlafsTer?
NM_001270447.2:c.1750_1751insC	NP_001257376.1:p.Glu584AlafsTer?
NM_001270448.2:c.1453_1454insC	NP_001257377.1:p.Glu485AlafsTer?