Canonical Allele Identifier: CA2635779734

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220276-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220277_7220278del , CM000679.2:g.7220277_7220278del	GRCh38
NC_000017.10:g.7123596_7123597del , CM000679.1:g.7123596_7123597del	GRCh37
NC_000017.9:g.7064320_7064321del	NCBI36
NG_007975.1:g.5444_5445del
NG_008391.2:g.4773_4774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.138+80_138+81del MANE Select	ENSP00000349297.5:n.138+80_138+81del
ENST00000322910.9:c.*93+80_*93+81del	ENSP00000325395.5:n.*93+80_*93+81del
ENST00000350303.9:c.138+80_138+81del	ENSP00000344152.5:n.138+80_138+81del
ENST00000356839.9:c.138+80_138+81del	ENSP00000349297.5:n.138+80_138+81del
ENST00000543245.6:c.207+80_207+81del	ENSP00000438689.2:n.207+80_207+81del
ENST00000577191.5:n.215+80_215+81del
ENST00000577433.5:n.86_87del
ENST00000577857.5:n.228+80_228+81del
ENST00000578269.5:n.325_326del
ENST00000578421.1:n.272+80_272+81del
ENST00000579286.5:n.245+80_245+81del
ENST00000579886.2:c.138+80_138+81del	ENSP00000463246.1:n.138+80_138+81del
ENST00000580263.5:n.228+80_228+81del
ENST00000581562.5:n.185+80_185+81del
ENST00000582056.5:n.228+80_228+81del
ENST00000582356.5:n.263+80_263+81del
ENST00000583312.5:c.138+80_138+81del	ENSP00000467920.1:n.138+80_138+81del
ENST00000584103.5:c.138+80_138+81del	ENSP00000465353.1:n.138+80_138+81del
NM_000018.3:c.138+80_138+81del	NP_000009.1:n.138+80_138+81del
NM_001033859.2:c.138+80_138+81del	NP_001029031.1:n.138+80_138+81del
NM_001270447.1:c.207+80_207+81del	NP_001257376.1:n.207+80_207+81del
NM_001270448.1:c.-91+80_-91+81del	NP_001257377.1:n.-91+80_-91+81del
XM_006721516.2:c.138+80_138+81del	XP_006721579.2:n.138+80_138+81del
XM_011523829.1:c.138+80_138+81del	XP_011522131.1:n.138+80_138+81del
XM_011523830.1:c.138+80_138+81del	XP_011522132.1:n.138+80_138+81del
XR_934021.1:n.245+80_245+81del
XR_934022.1:n.245+80_245+81del
XR_934023.1:n.245+80_245+81del
XM_006721516.3:c.138+80_138+81del	XP_006721579.2:n.138+80_138+81del
XM_011523829.2:c.138+80_138+81del	XP_011522131.1:n.138+80_138+81del
XM_011523830.2:c.138+80_138+81del	XP_011522132.1:n.138+80_138+81del
XM_024450741.1:c.138+80_138+81del	XP_024306509.1:n.138+80_138+81del
XR_934021.2:n.197+80_197+81del
XR_934022.2:n.197+80_197+81del
XR_934023.2:n.197+80_197+81del
NM_000018.4:c.138+80_138+81del MANE Select	NP_000009.1:n.138+80_138+81del
NM_001033859.3:c.138+80_138+81del	NP_001029031.1:n.138+80_138+81del
NM_001270447.2:c.207+80_207+81del	NP_001257376.1:n.207+80_207+81del
NM_001270448.2:c.-91+80_-91+81del	NP_001257377.1:n.-91+80_-91+81del