Canonical Allele Identifier: CA774739958

Gene: ACADVL

Linked Data

• dbSNP Id: rs1228344721
• gnomAD v4: 17-7220056-TGACAAGAGG-T
• MyVariant Identifiers: chr17:g.7123376_7123384del (hg19) ; chr17:g.7220057_7220065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220060_7220068del , CM000679.2:g.7220060_7220068del	GRCh38
NC_000017.10:g.7123379_7123387del , CM000679.1:g.7123379_7123387del	GRCh37
NC_000017.9:g.7064103_7064111del	NCBI36
NG_007975.1:g.5227_5235del
NG_008391.2:g.4986_4994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.62+14_62+22del MANE Select	ENSP00000349297.5:n.62+14_62+22del
ENST00000322910.9:c.76_84del	ENSP00000325395.5:p.Lys26_Asp28del
ENST00000350303.9:c.62+14_62+22del	ENSP00000344152.5:n.62+14_62+22del
ENST00000356839.9:c.62+14_62+22del	ENSP00000349297.5:n.62+14_62+22del
ENST00000543245.6:c.132-62_132-54del	ENSP00000438689.2:n.132-62_132-54del
ENST00000577191.5:n.139+14_139+22del
ENST00000577857.5:n.152+14_152+22del
ENST00000578269.5:n.169+14_169+22del
ENST00000578421.1:n.135_143del
ENST00000579286.5:n.169+14_169+22del
ENST00000579886.2:c.62+14_62+22del	ENSP00000463246.1:n.62+14_62+22del
ENST00000580263.5:n.152+14_152+22del
ENST00000581562.5:n.109+14_109+22del
ENST00000582056.5:n.152+14_152+22del
ENST00000582356.5:n.187+14_187+22del
ENST00000583312.5:c.62+14_62+22del	ENSP00000467920.1:n.62+14_62+22del
ENST00000584103.5:c.62+14_62+22del	ENSP00000465353.1:n.62+14_62+22del
NM_000018.3:c.62+14_62+22del	NP_000009.1:n.62+14_62+22del
NM_001033859.2:c.62+14_62+22del	NP_001029031.1:n.62+14_62+22del
NM_001270447.1:c.132-62_132-54del	NP_001257376.1:n.132-62_132-54del
NM_001270448.1:c.-228_-220del	NP_001257377.1:n.-228_-220del
XM_006721516.2:c.62+14_62+22del	XP_006721579.2:n.62+14_62+22del
XM_011523829.1:c.62+14_62+22del	XP_011522131.1:n.62+14_62+22del
XM_011523830.1:c.62+14_62+22del	XP_011522132.1:n.62+14_62+22del
XR_934021.1:n.169+14_169+22del
XR_934022.1:n.169+14_169+22del
XR_934023.1:n.169+14_169+22del
XM_006721516.3:c.62+14_62+22del	XP_006721579.2:n.62+14_62+22del
XM_011523829.2:c.62+14_62+22del	XP_011522131.1:n.62+14_62+22del
XM_011523830.2:c.62+14_62+22del	XP_011522132.1:n.62+14_62+22del
XM_024450741.1:c.62+14_62+22del	XP_024306509.1:n.62+14_62+22del
XR_934021.2:n.121+14_121+22del
XR_934022.2:n.121+14_121+22del
XR_934023.2:n.121+14_121+22del
NM_000018.4:c.62+14_62+22del MANE Select	NP_000009.1:n.62+14_62+22del
NM_001033859.3:c.62+14_62+22del	NP_001029031.1:n.62+14_62+22del
NM_001270447.2:c.132-62_132-54del	NP_001257376.1:n.132-62_132-54del
NM_001270448.2:c.-228_-220del	NP_001257377.1:n.-228_-220del