Canonical Allele Identifier: CA8337522

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1157538
• ClinVar RCV Id: RCV001500673
• dbSNP Id: rs777656865
• ExAC: 17:7123368 CTG / C
• gnomAD v2: 17-7123368-CTG-C
• gnomAD v4: 17-7220049-CTG-C
• MyVariant Identifiers: chr17:g.7123374_7123375del (hg19) ; chr17:g.7123369_7123370del (hg19) ; chr17:g.7220050_7220051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220056_7220057del , CM000679.2:g.7220056_7220057del	GRCh38
NC_000017.10:g.7123375_7123376del , CM000679.1:g.7123375_7123376del	GRCh37
NC_000017.9:g.7064099_7064100del	NCBI36
NG_007975.1:g.5223_5224del
NG_008391.2:g.5000_5001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.62+10_62+11del MANE Select	ENSP00000349297.5:n.62+10_62+11del
ENST00000322910.9:c.72_73del	ENSP00000325395.5:p.Cys24Ter
ENST00000350303.9:c.62+10_62+11del	ENSP00000344152.5:n.62+10_62+11del
ENST00000356839.9:c.62+10_62+11del	ENSP00000349297.5:n.62+10_62+11del
ENST00000543245.6:c.132-66_132-65del	ENSP00000438689.2:n.132-66_132-65del
ENST00000577191.5:n.139+10_139+11del
ENST00000577857.5:n.152+10_152+11del
ENST00000578269.5:n.169+10_169+11del
ENST00000578421.1:n.131_132del
ENST00000579286.5:n.169+10_169+11del
ENST00000579886.2:c.62+10_62+11del	ENSP00000463246.1:n.62+10_62+11del
ENST00000580263.5:n.152+10_152+11del
ENST00000581562.5:n.109+10_109+11del
ENST00000582056.5:n.152+10_152+11del
ENST00000582356.5:n.187+10_187+11del
ENST00000583312.5:c.62+10_62+11del	ENSP00000467920.1:n.62+10_62+11del
ENST00000584103.5:c.62+10_62+11del	ENSP00000465353.1:n.62+10_62+11del
NM_000018.3:c.62+10_62+11del	NP_000009.1:n.62+10_62+11del
NM_001033859.2:c.62+10_62+11del	NP_001029031.1:n.62+10_62+11del
NM_001270447.1:c.132-66_132-65del	NP_001257376.1:n.132-66_132-65del
NM_001270448.1:c.-232_-231del	NP_001257377.1:n.-232_-231del
XM_006721516.2:c.62+10_62+11del	XP_006721579.2:n.62+10_62+11del
XM_011523829.1:c.62+10_62+11del	XP_011522131.1:n.62+10_62+11del
XM_011523830.1:c.62+10_62+11del	XP_011522132.1:n.62+10_62+11del
XR_934021.1:n.169+10_169+11del
XR_934022.1:n.169+10_169+11del
XR_934023.1:n.169+10_169+11del
XM_006721516.3:c.62+10_62+11del	XP_006721579.2:n.62+10_62+11del
XM_011523829.2:c.62+10_62+11del	XP_011522131.1:n.62+10_62+11del
XM_011523830.2:c.62+10_62+11del	XP_011522132.1:n.62+10_62+11del
XM_024450741.1:c.62+10_62+11del	XP_024306509.1:n.62+10_62+11del
XR_934021.2:n.121+10_121+11del
XR_934022.2:n.121+10_121+11del
XR_934023.2:n.121+10_121+11del
NM_000018.4:c.62+10_62+11del MANE Select	NP_000009.1:n.62+10_62+11del
NM_001033859.3:c.62+10_62+11del	NP_001029031.1:n.62+10_62+11del
NM_001270447.2:c.132-66_132-65del	NP_001257376.1:n.132-66_132-65del
NM_001270448.2:c.-232_-231del	NP_001257377.1:n.-232_-231del