Canonical Allele Identifier: CA2635780728

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221231-T-TGGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221231_7221232insGGCTC , CM000679.2:g.7221231_7221232insGGCTC	GRCh38
NC_000017.10:g.7124550_7124551insGGCTC , CM000679.1:g.7124550_7124551insGGCTC	GRCh37
NC_000017.9:g.7065274_7065275insGGCTC	NCBI36
NG_007975.1:g.6398_6399insGGCTC
NG_008391.2:g.3819_3820insGAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+173_477+174insGGCTC MANE Select	ENSP00000349297.5:n.477+173_477+174insGGCTC
ENST00000322910.9:c.*432+173_*432+174insGGCTC	ENSP00000325395.5:n.*432+173_*432+174insGGCTC
ENST00000350303.9:c.411+173_411+174insGGCTC	ENSP00000344152.5:n.411+173_411+174insGGCTC
ENST00000356839.9:c.477+173_477+174insGGCTC	ENSP00000349297.5:n.477+173_477+174insGGCTC
ENST00000543245.6:c.546+173_546+174insGGCTC	ENSP00000438689.2:n.546+173_546+174insGGCTC
ENST00000577191.5:n.554+173_554+174insGGCTC
ENST00000577433.5:n.685+173_685+174insGGCTC
ENST00000577857.5:n.294-307_294-306insGGCTC
ENST00000579286.5:n.658+173_658+174insGGCTC
ENST00000579886.2:c.315+173_315+174insGGCTC	ENSP00000463246.1:n.315+173_315+174insGGCTC
ENST00000580365.1:n.208+173_208+174insGGCTC
ENST00000581378.5:c.176+173_176+174insGGCTC
ENST00000581562.5:n.524+173_524+174insGGCTC
ENST00000582166.1:n.458+173_458+174insGGCTC
ENST00000583312.5:c.477+173_477+174insGGCTC	ENSP00000467920.1:n.477+173_477+174insGGCTC
NM_000018.3:c.477+173_477+174insGGCTC	NP_000009.1:n.477+173_477+174insGGCTC
NM_001033859.2:c.411+173_411+174insGGCTC	NP_001029031.1:n.411+173_411+174insGGCTC
NM_001270447.1:c.546+173_546+174insGGCTC	NP_001257376.1:n.546+173_546+174insGGCTC
NM_001270448.1:c.249+173_249+174insGGCTC	NP_001257377.1:n.249+173_249+174insGGCTC
XM_006721516.2:c.477+173_477+174insGGCTC	XP_006721579.2:n.477+173_477+174insGGCTC
XM_011523829.1:c.477+173_477+174insGGCTC	XP_011522131.1:n.477+173_477+174insGGCTC
XM_011523830.1:c.477+173_477+174insGGCTC	XP_011522132.1:n.477+173_477+174insGGCTC
XR_934021.1:n.584+173_584+174insGGCTC
XR_934022.1:n.584+173_584+174insGGCTC
XR_934023.1:n.584+173_584+174insGGCTC
XM_006721516.3:c.477+173_477+174insGGCTC	XP_006721579.2:n.477+173_477+174insGGCTC
XM_011523829.2:c.477+173_477+174insGGCTC	XP_011522131.1:n.477+173_477+174insGGCTC
XM_011523830.2:c.477+173_477+174insGGCTC	XP_011522132.1:n.477+173_477+174insGGCTC
XM_024450741.1:c.477+173_477+174insGGCTC	XP_024306509.1:n.477+173_477+174insGGCTC
XR_934021.2:n.536+173_536+174insGGCTC
XR_934022.2:n.536+173_536+174insGGCTC
XR_934023.2:n.536+173_536+174insGGCTC
NM_000018.4:c.477+173_477+174insGGCTC MANE Select	NP_000009.1:n.477+173_477+174insGGCTC
NM_001033859.3:c.411+173_411+174insGGCTC	NP_001029031.1:n.411+173_411+174insGGCTC
NM_001270447.2:c.546+173_546+174insGGCTC	NP_001257376.1:n.546+173_546+174insGGCTC
NM_001270448.2:c.249+173_249+174insGGCTC	NP_001257377.1:n.249+173_249+174insGGCTC