Canonical Allele Identifier: CA624860803

Gene: ACADVL

Linked Data

• dbSNP Id: rs1555528988
• gnomAD v2: 17-7127931-A-ACCCCCCCC
• gnomAD v3: 17-7224612-A-ACCCCCCCC
• gnomAD v4: 17-7224612-A-ACCCCCCCC
• MyVariant Identifiers: chr17:g.7127931_7127932insCCCCCCCC (hg19) ; chr17:g.7224612_7224613insCCCCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224617_7224618insCCCCCCCC , CM000679.2:g.7224617_7224618insCCCCCCCC	GRCh38
NC_000017.10:g.7127936_7127937insCCCCCCCC , CM000679.1:g.7127936_7127937insCCCCCCCC	GRCh37
NC_000017.9:g.7068660_7068661insCCCCCCCC	NCBI36
NG_007975.1:g.9784_9785insCCCCCCCC
NG_008391.2:g.438_439insGGGGGGGG
NG_033038.1:g.14932_14933insGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-25_1679-24insCCCCCCCC MANE Select	ENSP00000349297.5:n.1679-25_1679-24insCCCCCCCC
ENST00000322910.9:c.*1634-25_*1634-24insCCCCCCCC	ENSP00000325395.5:n.*1634-25_*1634-24insCCCCCCCC
ENST00000350303.9:c.1613-25_1613-24insCCCCCCCC	ENSP00000344152.5:n.1613-25_1613-24insCCCCCCCC
ENST00000356839.9:c.1679-25_1679-24insCCCCCCCC	ENSP00000349297.5:n.1679-25_1679-24insCCCCCCCC
ENST00000542255.6:c.536+65_536+66insCCCCCCCC
ENST00000543245.6:c.1748-25_1748-24insCCCCCCCC	ENSP00000438689.2:n.1748-25_1748-24insCCCCCCCC
ENST00000578319.5:n.260-25_260-24insCCCCCCCC
ENST00000578711.1:n.1113_1114insCCCCCCCC
ENST00000578809.5:n.251-25_251-24insCCCCCCCC
ENST00000579425.5:n.795-25_795-24insCCCCCCCC
ENST00000579546.1:c.414-25_414-24insCCCCCCCC
ENST00000582450.1:n.251_252insCCCCCCCC
ENST00000583074.5:n.299+65_299+66insCCCCCCCC
ENST00000583848.5:c.65-45_65-44insCCCCCCCC	ENSP00000466487.1:n.65-45_65-44insCCCCCCCC
ENST00000583850.5:n.450-25_450-24insCCCCCCCC
ENST00000583858.5:c.610-25_610-24insCCCCCCCC
ENST00000585203.6:n.870-25_870-24insCCCCCCCC
NM_000018.3:c.1679-25_1679-24insCCCCCCCC	NP_000009.1:n.1679-25_1679-24insCCCCCCCC
NM_001033859.2:c.1613-25_1613-24insCCCCCCCC	NP_001029031.1:n.1613-25_1613-24insCCCCCCCC
NM_001270447.1:c.1748-25_1748-24insCCCCCCCC	NP_001257376.1:n.1748-25_1748-24insCCCCCCCC
NM_001270448.1:c.1451-25_1451-24insCCCCCCCC	NP_001257377.1:n.1451-25_1451-24insCCCCCCCC
XM_006721516.2:c.1678+65_1678+66insCCCCCCCC	XP_006721579.2:n.1678+65_1678+66insCCCCCCCC
XM_011523829.1:c.1576+65_1576+66insCCCCCCCC	XP_011522131.1:n.1576+65_1576+66insCCCCCCCC
XM_011523830.1:c.1577-25_1577-24insCCCCCCCC	XP_011522132.1:n.1577-25_1577-24insCCCCCCCC
XR_934021.1:n.1782-25_1782-24insCCCCCCCC
XR_934022.1:n.1688-25_1688-24insCCCCCCCC
XR_934023.1:n.1687+65_1687+66insCCCCCCCC
XM_006721516.3:c.1678+65_1678+66insCCCCCCCC	XP_006721579.2:n.1678+65_1678+66insCCCCCCCC
XM_011523829.2:c.1576+65_1576+66insCCCCCCCC	XP_011522131.1:n.1576+65_1576+66insCCCCCCCC
XM_011523830.2:c.1577-25_1577-24insCCCCCCCC	XP_011522132.1:n.1577-25_1577-24insCCCCCCCC
XM_024450741.1:c.1667-25_1667-24insCCCCCCCC	XP_024306509.1:n.1667-25_1667-24insCCCCCCCC
XR_934021.2:n.1734-25_1734-24insCCCCCCCC
XR_934022.2:n.1640-25_1640-24insCCCCCCCC
XR_934023.2:n.1639+65_1639+66insCCCCCCCC
NM_000018.4:c.1679-25_1679-24insCCCCCCCC MANE Select	NP_000009.1:n.1679-25_1679-24insCCCCCCCC
NM_001033859.3:c.1613-25_1613-24insCCCCCCCC	NP_001029031.1:n.1613-25_1613-24insCCCCCCCC
NM_001270447.2:c.1748-25_1748-24insCCCCCCCC	NP_001257376.1:n.1748-25_1748-24insCCCCCCCC
NM_001270448.2:c.1451-25_1451-24insCCCCCCCC	NP_001257377.1:n.1451-25_1451-24insCCCCCCCC