Canonical Allele Identifier: CA658824829

Gene: ACADVL DLG4

Linked Data

• ClinVar Variation Id: 552503
• ClinVar RCV Id: RCV000667776
• dbSNP Id: rs1555527450
• MyVariant Identifiers: chr17:g.7220000_7220016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220000_7220016del , CM000679.2:g.7220000_7220016del	GRCh38
NC_000017.10:g.7123319_7123335del , CM000679.1:g.7123319_7123335del	GRCh37
NC_000017.9:g.7064043_7064059del	NCBI36
NG_007975.1:g.5167_5183del
NG_008391.2:g.5037_5053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.16_32del (ACADVL) MANE Select	ENSP00000349297.5:p.Met6AlafsTer?
ENST00000322910.9:c.16_32del (ACADVL)	ENSP00000325395.5:p.Met6AlafsTer14
ENST00000350303.9:c.16_32del (ACADVL)	ENSP00000344152.5:p.Met6AlafsTer?
ENST00000356839.9:c.16_32del (ACADVL)	ENSP00000349297.5:p.Met6AlafsTer?
ENST00000543245.6:c.132-122_132-106del (ACADVL)	ENSP00000438689.2:n.132-122_132-106del
ENST00000577191.5:n.93_109del (ACADVL)
ENST00000577857.5:n.106_122del (ACADVL)
ENST00000578269.5:n.123_139del (ACADVL)
ENST00000578421.1:n.75_91del (ACADVL)
ENST00000579286.5:n.123_139del (ACADVL)
ENST00000579886.2:c.16_32del (ACADVL)	ENSP00000463246.1:p.Met6AlafsTer?
ENST00000580263.5:n.106_122del (ACADVL)
ENST00000581562.5:n.63_79del (ACADVL)
ENST00000582056.5:n.106_122del (ACADVL)
ENST00000582356.5:n.141_157del (ACADVL)
ENST00000583312.5:c.16_32del (ACADVL)	ENSP00000467920.1:p.Met6AlafsTer?
ENST00000584103.5:c.16_32del (ACADVL)	ENSP00000465353.1:p.Met6AlafsTer?
NM_000018.3:c.16_32del (ACADVL)	NP_000009.1:p.Met6AlafsTer?
NM_001033859.2:c.16_32del (ACADVL)	NP_001029031.1:p.Met6AlafsTer?
NM_001270447.1:c.132-122_132-106del (ACADVL)	NP_001257376.1:n.132-122_132-106del
NM_001270448.1:c.-288_-272del (ACADVL)	NP_001257377.1:n.-288_-272del
NM_001365.3:c.-1165_-1149del (DLG4)	NP_001356.1:n.-1165_-1149del
XM_006721516.2:c.16_32del (ACADVL)	XP_006721579.2:p.Met6AlafsTer?
XM_011523829.1:c.16_32del (ACADVL)	XP_011522131.1:p.Met6AlafsTer?
XM_011523830.1:c.16_32del (ACADVL)	XP_011522132.1:p.Met6AlafsTer?
XR_934021.1:n.123_139del (ACADVL)
XR_934022.1:n.123_139del (ACADVL)
XR_934023.1:n.123_139del (ACADVL)
NM_001321074.1:c.-1165_-1149del (DLG4)	NP_001308003.1:n.-1165_-1149del
NM_001365.4:c.-1165_-1149del (DLG4)	NP_001356.1:n.-1165_-1149del
NR_135527.1:n.37_53del (DLG4)
XM_006721516.3:c.16_32del (ACADVL)	XP_006721579.2:p.Met6AlafsTer?
XM_011523829.2:c.16_32del (ACADVL)	XP_011522131.1:p.Met6AlafsTer?
XM_011523830.2:c.16_32del (ACADVL)	XP_011522132.1:p.Met6AlafsTer?
XM_024450741.1:c.16_32del (ACADVL)	XP_024306509.1:p.Met6AlafsTer?
XR_934021.2:n.75_91del (ACADVL)
XR_934022.2:n.75_91del (ACADVL)
XR_934023.2:n.75_91del (ACADVL)
NM_000018.4:c.16_32del (ACADVL) MANE Select	NP_000009.1:p.Met6AlafsTer?
NM_001033859.3:c.16_32del (ACADVL)	NP_001029031.1:p.Met6AlafsTer?
NM_001270447.2:c.132-122_132-106del (ACADVL)	NP_001257376.1:n.132-122_132-106del
NM_001270448.2:c.-288_-272del (ACADVL)	NP_001257377.1:n.-288_-272del