Canonical Allele Identifier: CA8338018

Gene: ACADVL

Linked Data

• dbSNP Id: rs780317644
• ExAC: 17:7126712 AAG / A
• gnomAD v2: 17-7126712-AAG-A
• gnomAD v3: 17-7223393-AAG-A
• gnomAD v4: 17-7223393-AAG-A
• MyVariant Identifiers: chr17:g.7126713_7126714del (hg19) ; chr17:g.7223395_7223396del (hg38) ; chr17:g.7223394_7223395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223399_7223400del , CM000679.2:g.7223399_7223400del	GRCh38
NC_000017.10:g.7126718_7126719del , CM000679.1:g.7126718_7126719del	GRCh37
NC_000017.9:g.7067442_7067443del	NCBI36
NG_007975.1:g.8566_8567del
NG_008391.2:g.1656_1657del
NG_033038.1:g.16150_16151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+162_1182+163del MANE Select	ENSP00000349297.5:n.1182+162_1182+163del
ENST00000322910.9:c.*1137+162_*1137+163del	ENSP00000325395.5:n.*1137+162_*1137+163del
ENST00000350303.9:c.1116+162_1116+163del	ENSP00000344152.5:n.1116+162_1116+163del
ENST00000356839.9:c.1182+162_1182+163del	ENSP00000349297.5:n.1182+162_1182+163del
ENST00000542255.6:c.40+162_40+163del
ENST00000543245.6:c.1251+162_1251+163del	ENSP00000438689.2:n.1251+162_1251+163del
ENST00000578579.2:n.132-23_132-22del
ENST00000578824.5:n.598+162_598+163del
ENST00000579425.5:n.206+162_206+163del
ENST00000579546.1:c.19+162_19+163del
ENST00000583858.5:c.211+162_211+163del
ENST00000585203.6:n.390+162_390+163del
NM_000018.3:c.1182+162_1182+163del	NP_000009.1:n.1182+162_1182+163del
NM_001033859.2:c.1116+162_1116+163del	NP_001029031.1:n.1116+162_1116+163del
NM_001270447.1:c.1251+162_1251+163del	NP_001257376.1:n.1251+162_1251+163del
NM_001270448.1:c.954+162_954+163del	NP_001257377.1:n.954+162_954+163del
XM_006721516.2:c.1182+162_1182+163del	XP_006721579.2:n.1182+162_1182+163del
XM_011523829.1:c.1182+162_1182+163del	XP_011522131.1:n.1182+162_1182+163del
XM_011523830.1:c.1182+162_1182+163del	XP_011522132.1:n.1182+162_1182+163del
XR_934021.1:n.1289+162_1289+163del
XR_934022.1:n.1289+162_1289+163del
XR_934023.1:n.1289+162_1289+163del
XM_006721516.3:c.1182+162_1182+163del	XP_006721579.2:n.1182+162_1182+163del
XM_011523829.2:c.1182+162_1182+163del	XP_011522131.1:n.1182+162_1182+163del
XM_011523830.2:c.1182+162_1182+163del	XP_011522132.1:n.1182+162_1182+163del
XM_024450741.1:c.1182+162_1182+163del	XP_024306509.1:n.1182+162_1182+163del
XR_934021.2:n.1241+162_1241+163del
XR_934022.2:n.1241+162_1241+163del
XR_934023.2:n.1241+162_1241+163del
NM_000018.4:c.1182+162_1182+163del MANE Select	NP_000009.1:n.1182+162_1182+163del
NM_001033859.3:c.1116+162_1116+163del	NP_001029031.1:n.1116+162_1116+163del
NM_001270447.2:c.1251+162_1251+163del	NP_001257376.1:n.1251+162_1251+163del
NM_001270448.2:c.954+162_954+163del	NP_001257377.1:n.954+162_954+163del