Canonical Allele Identifier: CA981155101

Gene: ACADVL

Linked Data

• gnomAD v3: 17-7224628-CACCT-C
• gnomAD v4: 17-7224628-CACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224632_7224635del , CM000679.2:g.7224632_7224635del	GRCh38
NC_000017.10:g.7127951_7127954del , CM000679.1:g.7127951_7127954del	GRCh37
NC_000017.9:g.7068675_7068678del	NCBI36
NG_007975.1:g.9799_9802del
NG_008391.2:g.419_422del
NG_033038.1:g.14913_14916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1679-10_1679-7del MANE Select	ENSP00000349297.5:n.1679-10_1679-7del
ENST00000322910.9:c.*1634-10_*1634-7del	ENSP00000325395.5:n.*1634-10_*1634-7del
ENST00000350303.9:c.1613-10_1613-7del	ENSP00000344152.5:n.1613-10_1613-7del
ENST00000356839.9:c.1679-10_1679-7del	ENSP00000349297.5:n.1679-10_1679-7del
ENST00000542255.6:c.536+80_537-80del
ENST00000543245.6:c.1748-10_1748-7del	ENSP00000438689.2:n.1748-10_1748-7del
ENST00000578319.5:n.260-10_260-7del
ENST00000578711.1:n.1128_1131del
ENST00000578809.5:n.251-10_251-7del
ENST00000579425.5:n.795-10_795-7del
ENST00000579546.1:c.414-10_414-7del
ENST00000582450.1:n.266_269del
ENST00000583074.5:n.299+80_300-80del
ENST00000583848.5:c.65-30_65-27del	ENSP00000466487.1:n.65-30_65-27del
ENST00000583850.5:n.450-10_450-7del
ENST00000583858.5:c.610-10_610-7del
ENST00000585203.6:n.870-10_870-7del
NM_000018.3:c.1679-10_1679-7del	NP_000009.1:n.1679-10_1679-7del
NM_001033859.2:c.1613-10_1613-7del	NP_001029031.1:n.1613-10_1613-7del
NM_001270447.1:c.1748-10_1748-7del	NP_001257376.1:n.1748-10_1748-7del
NM_001270448.1:c.1451-10_1451-7del	NP_001257377.1:n.1451-10_1451-7del
XM_006721516.2:c.1678+80_1679-80del	XP_006721579.2:n.1678+80_1679-80del
XM_011523829.1:c.1576+80_1577-80del	XP_011522131.1:n.1576+80_1577-80del
XM_011523830.1:c.1577-10_1577-7del	XP_011522132.1:n.1577-10_1577-7del
XR_934021.1:n.1782-10_1782-7del
XR_934022.1:n.1688-10_1688-7del
XR_934023.1:n.1687+80_1688-80del
XM_006721516.3:c.1678+80_1679-80del	XP_006721579.2:n.1678+80_1679-80del
XM_011523829.2:c.1576+80_1577-80del	XP_011522131.1:n.1576+80_1577-80del
XM_011523830.2:c.1577-10_1577-7del	XP_011522132.1:n.1577-10_1577-7del
XM_024450741.1:c.1667-10_1667-7del	XP_024306509.1:n.1667-10_1667-7del
XR_934021.2:n.1734-10_1734-7del
XR_934022.2:n.1640-10_1640-7del
XR_934023.2:n.1639+80_1640-80del
NM_000018.4:c.1679-10_1679-7del MANE Select	NP_000009.1:n.1679-10_1679-7del
NM_001033859.3:c.1613-10_1613-7del	NP_001029031.1:n.1613-10_1613-7del
NM_001270447.2:c.1748-10_1748-7del	NP_001257376.1:n.1748-10_1748-7del
NM_001270448.2:c.1451-10_1451-7del	NP_001257377.1:n.1451-10_1451-7del