Canonical Allele Identifier: CA2635787355

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225093-TCTGAATACTCCCGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225095_7225109del , CM000679.2:g.7225095_7225109del	GRCh38
NC_000017.10:g.7128414_7128428del , CM000679.1:g.7128414_7128428del	GRCh37
NC_000017.9:g.7069138_7069152del	NCBI36
NG_007975.1:g.10262_10276del
NG_033038.1:g.14437_14451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1966_*12del MANE Select	ENSP00000349297.5:n.[c.1966_*12del;Ter656ArgextTer?]
ENST00000322910.9:c.*1921_*1935del	ENSP00000325395.5:n.*1921_*1935del
ENST00000350303.9:c.1900_*12del	ENSP00000344152.5:n.[c.1900_*12del;Ter634ArgextTer?]
ENST00000356839.9:c.1966_*12del	ENSP00000349297.5:n.[c.1966_*12del;Ter656ArgextTer?]
ENST00000542255.6:c.845_859del
ENST00000543245.6:c.2035_*12del	ENSP00000438689.2:n.[c.2035_*12del;Ter679ArgextTer?]
ENST00000578033.1:n.391_405del
ENST00000578319.5:n.547_561del
ENST00000578711.1:n.1591_1605del
ENST00000578809.5:n.538_552del
ENST00000579425.5:n.1082_1096del
ENST00000583848.5:c.332_346del	ENSP00000466487.1:n.332_346del
ENST00000583850.5:n.737_751del
ENST00000583858.5:c.897_911del
NM_000018.3:c.1966_*12del	NP_000009.1:n.[c.1966_*12del;Ter656ArgextTer?]
NM_001033859.2:c.1900_*12del	NP_001029031.1:n.[c.1900_*12del;Ter634ArgextTer?]
NM_001270447.1:c.2035_*12del	NP_001257376.1:n.[c.2035_*12del;Ter679ArgextTer?]
NM_001270448.1:c.1738_*12del	NP_001257377.1:n.[c.1738_*12del;Ter580ArgextTer?]
XM_006721516.2:c.1987_*12del	XP_006721579.2:n.[c.1987_*12del;Ter663ArgextTer?]
XM_011523829.1:c.1885_*12del	XP_011522131.1:n.[c.1885_*12del;Ter629ArgextTer?]
XM_011523830.1:c.1864_*12del	XP_011522132.1:n.[c.1864_*12del;Ter622ArgextTer?]
XR_934021.1:n.2069_2083del
XR_934022.1:n.1975_1989del
XR_934023.1:n.1996_2010del
XM_006721516.3:c.1987_*12del	XP_006721579.2:n.[c.1987_*12del;Ter663ArgextTer?]
XM_011523829.2:c.1885_*12del	XP_011522131.1:n.[c.1885_*12del;Ter629ArgextTer?]
XM_011523830.2:c.1864_*12del	XP_011522132.1:n.[c.1864_*12del;Ter622ArgextTer?]
XM_024450741.1:c.1954_*12del	XP_024306509.1:n.[c.1954_*12del;Ter652ArgextTer?]
XR_934021.2:n.2021_2035del
XR_934022.2:n.1927_1941del
XR_934023.2:n.1948_1962del
NM_000018.4:c.1966_*12del MANE Select	NP_000009.1:n.[c.1966_*12del;Ter656ArgextTer?]
NM_001033859.3:c.1900_*12del	NP_001029031.1:n.[c.1900_*12del;Ter634ArgextTer?]
NM_001270447.2:c.2035_*12del	NP_001257376.1:n.[c.2035_*12del;Ter679ArgextTer?]
NM_001270448.2:c.1738_*12del	NP_001257377.1:n.[c.1738_*12del;Ter580ArgextTer?]