Canonical Allele Identifier: CA2635786328

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224635-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224636_7224637del , CM000679.2:g.7224636_7224637del	GRCh38
NC_000017.10:g.7127955_7127956del , CM000679.1:g.7127955_7127956del	GRCh37
NC_000017.9:g.7068679_7068680del	NCBI36
NG_007975.1:g.9803_9804del
NG_008391.2:g.414_415del
NG_033038.1:g.14908_14909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1679-6_1679-5del MANE Select	ENSP00000349297.5:n.1679-6_1679-5del
ENST00000322910.9:c.*1634-6_*1634-5del	ENSP00000325395.5:n.*1634-6_*1634-5del
ENST00000350303.9:c.1613-6_1613-5del	ENSP00000344152.5:n.1613-6_1613-5del
ENST00000356839.9:c.1679-6_1679-5del	ENSP00000349297.5:n.1679-6_1679-5del
ENST00000542255.6:c.537-79_537-78del
ENST00000543245.6:c.1748-6_1748-5del	ENSP00000438689.2:n.1748-6_1748-5del
ENST00000578033.1:n.4_5del
ENST00000578319.5:n.260-6_260-5del
ENST00000578711.1:n.1132_1133del
ENST00000578809.5:n.251-6_251-5del
ENST00000579425.5:n.795-6_795-5del
ENST00000579546.1:c.414-6_414-5del
ENST00000582450.1:n.270_271del
ENST00000583074.5:n.300-79_300-78del
ENST00000583848.5:c.65-26_65-25del	ENSP00000466487.1:n.65-26_65-25del
ENST00000583850.5:n.450-6_450-5del
ENST00000583858.5:c.610-6_610-5del
ENST00000585203.6:n.870-6_870-5del
NM_000018.3:c.1679-6_1679-5del	NP_000009.1:n.1679-6_1679-5del
NM_001033859.2:c.1613-6_1613-5del	NP_001029031.1:n.1613-6_1613-5del
NM_001270447.1:c.1748-6_1748-5del	NP_001257376.1:n.1748-6_1748-5del
NM_001270448.1:c.1451-6_1451-5del	NP_001257377.1:n.1451-6_1451-5del
XM_006721516.2:c.1679-79_1679-78del	XP_006721579.2:n.1679-79_1679-78del
XM_011523829.1:c.1577-79_1577-78del	XP_011522131.1:n.1577-79_1577-78del
XM_011523830.1:c.1577-6_1577-5del	XP_011522132.1:n.1577-6_1577-5del
XR_934021.1:n.1782-6_1782-5del
XR_934022.1:n.1688-6_1688-5del
XR_934023.1:n.1688-79_1688-78del
XM_006721516.3:c.1679-79_1679-78del	XP_006721579.2:n.1679-79_1679-78del
XM_011523829.2:c.1577-79_1577-78del	XP_011522131.1:n.1577-79_1577-78del
XM_011523830.2:c.1577-6_1577-5del	XP_011522132.1:n.1577-6_1577-5del
XM_024450741.1:c.1667-6_1667-5del	XP_024306509.1:n.1667-6_1667-5del
XR_934021.2:n.1734-6_1734-5del
XR_934022.2:n.1640-6_1640-5del
XR_934023.2:n.1640-79_1640-78del
NM_000018.4:c.1679-6_1679-5del MANE Select	NP_000009.1:n.1679-6_1679-5del
NM_001033859.3:c.1613-6_1613-5del	NP_001029031.1:n.1613-6_1613-5del
NM_001270447.2:c.1748-6_1748-5del	NP_001257376.1:n.1748-6_1748-5del
NM_001270448.2:c.1451-6_1451-5del	NP_001257377.1:n.1451-6_1451-5del