Canonical Allele Identifier: CA2590146850

Gene: ACADVL

Linked Data

• gnomAD v3: 17-7224395-TAA-T
• gnomAD v4: 17-7224395-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224396_7224397del , CM000679.2:g.7224396_7224397del	GRCh38
NC_000017.10:g.7127715_7127716del , CM000679.1:g.7127715_7127716del	GRCh37
NC_000017.9:g.7068439_7068440del	NCBI36
NG_007975.1:g.9563_9564del
NG_008391.2:g.654_655del
NG_033038.1:g.15148_15149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+3_1605+4del MANE Select	ENSP00000349297.5:n.1605+3_1605+4del
ENST00000322910.9:c.*1560+3_*1560+4del	ENSP00000325395.5:n.*1560+3_*1560+4del
ENST00000350303.9:c.1539+3_1539+4del	ENSP00000344152.5:n.1539+3_1539+4del
ENST00000356839.9:c.1605+3_1605+4del	ENSP00000349297.5:n.1605+3_1605+4del
ENST00000542255.6:c.463+3_463+4del
ENST00000543245.6:c.1674+3_1674+4del	ENSP00000438689.2:n.1674+3_1674+4del
ENST00000578319.5:n.103_104del
ENST00000578711.1:n.892_893del
ENST00000578809.5:n.177+3_177+4del
ENST00000579391.1:n.213+3_213+4del
ENST00000579425.5:n.721+3_721+4del
ENST00000579546.1:c.344+3_344+4del
ENST00000579894.5:n.392+3_392+4del
ENST00000582450.1:n.113+3_113+4del
ENST00000583074.5:n.226+3_226+4del
ENST00000583850.5:n.380+3_380+4del
ENST00000583858.5:c.536+3_536+4del
ENST00000585203.6:n.796+3_796+4del
NM_000018.3:c.1605+3_1605+4del	NP_000009.1:n.1605+3_1605+4del
NM_001033859.2:c.1539+3_1539+4del	NP_001029031.1:n.1539+3_1539+4del
NM_001270447.1:c.1674+3_1674+4del	NP_001257376.1:n.1674+3_1674+4del
NM_001270448.1:c.1377+3_1377+4del	NP_001257377.1:n.1377+3_1377+4del
XM_006721516.2:c.1605+3_1605+4del	XP_006721579.2:n.1605+3_1605+4del
XM_011523829.1:c.1507+3_1507+4del	XP_011522131.1:n.1507+3_1507+4del
XM_011523830.1:c.1507+3_1507+4del	XP_011522132.1:n.1507+3_1507+4del
XR_934021.1:n.1712+3_1712+4del
XR_934022.1:n.1614+3_1614+4del
XR_934023.1:n.1614+3_1614+4del
XM_006721516.3:c.1605+3_1605+4del	XP_006721579.2:n.1605+3_1605+4del
XM_011523829.2:c.1507+3_1507+4del	XP_011522131.1:n.1507+3_1507+4del
XM_011523830.2:c.1507+3_1507+4del	XP_011522132.1:n.1507+3_1507+4del
XM_024450741.1:c.1510_1511del	XP_024306509.1:p.Lys504ValfsTer27
XR_934021.2:n.1664+3_1664+4del
XR_934022.2:n.1566+3_1566+4del
XR_934023.2:n.1566+3_1566+4del
NM_000018.4:c.1605+3_1605+4del MANE Select	NP_000009.1:n.1605+3_1605+4del
NM_001033859.3:c.1539+3_1539+4del	NP_001029031.1:n.1539+3_1539+4del
NM_001270447.2:c.1674+3_1674+4del	NP_001257376.1:n.1674+3_1674+4del
NM_001270448.2:c.1377+3_1377+4del	NP_001257377.1:n.1377+3_1377+4del