Canonical Allele Identifier: CA624860786

Gene: ACADVL

Linked Data

• gnomAD v2: 17-7127924-T-TCCCCCCC
• gnomAD v4: 17-7224605-T-TCCCCCCC
• MyVariant Identifiers: chr17:g.7127924_7127925insCCCCCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224605_7224606insCCCCCCC , CM000679.2:g.7224605_7224606insCCCCCCC	GRCh38
NC_000017.10:g.7127924_7127925insCCCCCCC , CM000679.1:g.7127924_7127925insCCCCCCC	GRCh37
NC_000017.9:g.7068648_7068649insCCCCCCC	NCBI36
NG_007975.1:g.9772_9773insCCCCCCC
NG_008391.2:g.445_446insGGGGGGG
NG_033038.1:g.14939_14940insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-37_1679-36insCCCCCCC MANE Select	ENSP00000349297.5:n.1679-37_1679-36insCCCCCCC
ENST00000322910.9:c.*1634-37_*1634-36insCCCCCCC	ENSP00000325395.5:n.*1634-37_*1634-36insCCCCCCC
ENST00000350303.9:c.1613-37_1613-36insCCCCCCC	ENSP00000344152.5:n.1613-37_1613-36insCCCCCCC
ENST00000356839.9:c.1679-37_1679-36insCCCCCCC	ENSP00000349297.5:n.1679-37_1679-36insCCCCCCC
ENST00000542255.6:c.536+53_536+54insCCCCCCC
ENST00000543245.6:c.1748-37_1748-36insCCCCCCC	ENSP00000438689.2:n.1748-37_1748-36insCCCCCCC
ENST00000578319.5:n.260-37_260-36insCCCCCCC
ENST00000578711.1:n.1101_1102insCCCCCCC
ENST00000578809.5:n.251-37_251-36insCCCCCCC
ENST00000579391.1:n.335_336insCCCCCCC
ENST00000579425.5:n.795-37_795-36insCCCCCCC
ENST00000579546.1:c.414-37_414-36insCCCCCCC
ENST00000582450.1:n.239_240insCCCCCCC
ENST00000583074.5:n.299+53_299+54insCCCCCCC
ENST00000583848.5:c.64+53_64+54insCCCCCCC	ENSP00000466487.1:n.64+53_64+54insCCCCCCC
ENST00000583850.5:n.450-37_450-36insCCCCCCC
ENST00000583858.5:c.610-37_610-36insCCCCCCC
ENST00000585203.6:n.870-37_870-36insCCCCCCC
NM_000018.3:c.1679-37_1679-36insCCCCCCC	NP_000009.1:n.1679-37_1679-36insCCCCCCC
NM_001033859.2:c.1613-37_1613-36insCCCCCCC	NP_001029031.1:n.1613-37_1613-36insCCCCCCC
NM_001270447.1:c.1748-37_1748-36insCCCCCCC	NP_001257376.1:n.1748-37_1748-36insCCCCCCC
NM_001270448.1:c.1451-37_1451-36insCCCCCCC	NP_001257377.1:n.1451-37_1451-36insCCCCCCC
XM_006721516.2:c.1678+53_1678+54insCCCCCCC	XP_006721579.2:n.1678+53_1678+54insCCCCCCC
XM_011523829.1:c.1576+53_1576+54insCCCCCCC	XP_011522131.1:n.1576+53_1576+54insCCCCCCC
XM_011523830.1:c.1577-37_1577-36insCCCCCCC	XP_011522132.1:n.1577-37_1577-36insCCCCCCC
XR_934021.1:n.1782-37_1782-36insCCCCCCC
XR_934022.1:n.1688-37_1688-36insCCCCCCC
XR_934023.1:n.1687+53_1687+54insCCCCCCC
XM_006721516.3:c.1678+53_1678+54insCCCCCCC	XP_006721579.2:n.1678+53_1678+54insCCCCCCC
XM_011523829.2:c.1576+53_1576+54insCCCCCCC	XP_011522131.1:n.1576+53_1576+54insCCCCCCC
XM_011523830.2:c.1577-37_1577-36insCCCCCCC	XP_011522132.1:n.1577-37_1577-36insCCCCCCC
XM_024450741.1:c.1667-37_1667-36insCCCCCCC	XP_024306509.1:n.1667-37_1667-36insCCCCCCC
XR_934021.2:n.1734-37_1734-36insCCCCCCC
XR_934022.2:n.1640-37_1640-36insCCCCCCC
XR_934023.2:n.1639+53_1639+54insCCCCCCC
NM_000018.4:c.1679-37_1679-36insCCCCCCC MANE Select	NP_000009.1:n.1679-37_1679-36insCCCCCCC
NM_001033859.3:c.1613-37_1613-36insCCCCCCC	NP_001029031.1:n.1613-37_1613-36insCCCCCCC
NM_001270447.2:c.1748-37_1748-36insCCCCCCC	NP_001257376.1:n.1748-37_1748-36insCCCCCCC
NM_001270448.2:c.1451-37_1451-36insCCCCCCC	NP_001257377.1:n.1451-37_1451-36insCCCCCCC