Canonical Allele Identifier: CA2245697951

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071132095
• gnomAD v4: 17-7220296-TACTGCTCAGTCGCCGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220298_7220314del , CM000679.2:g.7220298_7220314del	GRCh38
NC_000017.10:g.7123617_7123633del , CM000679.1:g.7123617_7123633del	GRCh37
NC_000017.9:g.7064341_7064357del	NCBI36
NG_007975.1:g.5465_5481del
NG_008391.2:g.4738_4754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.138+101_138+117del MANE Select	ENSP00000349297.5:n.138+101_138+117del
ENST00000322910.9:c.*93+101_*93+117del	ENSP00000325395.5:n.*93+101_*93+117del
ENST00000350303.9:c.138+101_138+117del	ENSP00000344152.5:n.138+101_138+117del
ENST00000356839.9:c.138+101_138+117del	ENSP00000349297.5:n.138+101_138+117del
ENST00000543245.6:c.207+101_207+117del	ENSP00000438689.2:n.207+101_207+117del
ENST00000577191.5:n.215+101_215+117del
ENST00000577433.5:n.107_123del
ENST00000577857.5:n.228+101_228+117del
ENST00000578269.5:n.346_362del
ENST00000578421.1:n.272+101_272+117del
ENST00000579286.5:n.245+101_245+117del
ENST00000579886.2:c.138+101_138+117del	ENSP00000463246.1:n.138+101_138+117del
ENST00000580263.5:n.228+101_228+117del
ENST00000581562.5:n.185+101_185+117del
ENST00000582056.5:n.228+101_228+117del
ENST00000582356.5:n.263+101_263+117del
ENST00000583312.5:c.138+101_138+117del	ENSP00000467920.1:n.138+101_138+117del
ENST00000584103.5:c.138+101_138+117del	ENSP00000465353.1:n.138+101_138+117del
NM_000018.3:c.138+101_138+117del	NP_000009.1:n.138+101_138+117del
NM_001033859.2:c.138+101_138+117del	NP_001029031.1:n.138+101_138+117del
NM_001270447.1:c.207+101_207+117del	NP_001257376.1:n.207+101_207+117del
NM_001270448.1:c.-91+101_-91+117del	NP_001257377.1:n.-91+101_-91+117del
XM_006721516.2:c.138+101_138+117del	XP_006721579.2:n.138+101_138+117del
XM_011523829.1:c.138+101_138+117del	XP_011522131.1:n.138+101_138+117del
XM_011523830.1:c.138+101_138+117del	XP_011522132.1:n.138+101_138+117del
XR_934021.1:n.245+101_245+117del
XR_934022.1:n.245+101_245+117del
XR_934023.1:n.245+101_245+117del
XM_006721516.3:c.138+101_138+117del	XP_006721579.2:n.138+101_138+117del
XM_011523829.2:c.138+101_138+117del	XP_011522131.1:n.138+101_138+117del
XM_011523830.2:c.138+101_138+117del	XP_011522132.1:n.138+101_138+117del
XM_024450741.1:c.138+101_138+117del	XP_024306509.1:n.138+101_138+117del
XR_934021.2:n.197+101_197+117del
XR_934022.2:n.197+101_197+117del
XR_934023.2:n.197+101_197+117del
NM_000018.4:c.138+101_138+117del MANE Select	NP_000009.1:n.138+101_138+117del
NM_001033859.3:c.138+101_138+117del	NP_001029031.1:n.138+101_138+117del
NM_001270447.2:c.207+101_207+117del	NP_001257376.1:n.207+101_207+117del
NM_001270448.2:c.-91+101_-91+117del	NP_001257377.1:n.-91+101_-91+117del