Canonical Allele Identifier: CA2635784902

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224605-T-TTCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224605_7224606insTCCCCCCCCCCCCCCC , CM000679.2:g.7224605_7224606insTCCCCCCCCCCCCCCC	GRCh38
NC_000017.10:g.7127924_7127925insTCCCCCCCCCCCCCCC , CM000679.1:g.7127924_7127925insTCCCCCCCCCCCCCCC	GRCh37
NC_000017.9:g.7068648_7068649insTCCCCCCCCCCCCCCC	NCBI36
NG_007975.1:g.9772_9773insTCCCCCCCCCCCCCCC
NG_008391.2:g.445_446insGGGGGGGGGGGGGGGA
NG_033038.1:g.14939_14940insGGGGGGGGGGGGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-37_1679-36insTCCCCCCCCCCCCCCC MANE Select	ENSP00000349297.5:n.1679-37_1679-36insTCCCCCCCCCCCCCCC
ENST00000322910.9:c.*1634-37_*1634-36insTCCCCCCCCCCCCCCC	ENSP00000325395.5:n.*1634-37_*1634-36insTCCCCCCCCCCCCCCC
ENST00000350303.9:c.1613-37_1613-36insTCCCCCCCCCCCCCCC	ENSP00000344152.5:n.1613-37_1613-36insTCCCCCCCCCCCCCCC
ENST00000356839.9:c.1679-37_1679-36insTCCCCCCCCCCCCCCC	ENSP00000349297.5:n.1679-37_1679-36insTCCCCCCCCCCCCCCC
ENST00000542255.6:c.536+53_536+54insTCCCCCCCCCCCCCCC
ENST00000543245.6:c.1748-37_1748-36insTCCCCCCCCCCCCCCC	ENSP00000438689.2:n.1748-37_1748-36insTCCCCCCCCCCCCCCC
ENST00000578319.5:n.260-37_260-36insTCCCCCCCCCCCCCCC
ENST00000578711.1:n.1101_1102insTCCCCCCCCCCCCCCC
ENST00000578809.5:n.251-37_251-36insTCCCCCCCCCCCCCCC
ENST00000579391.1:n.335_336insTCCCCCCCCCCCCCCC
ENST00000579425.5:n.795-37_795-36insTCCCCCCCCCCCCCCC
ENST00000579546.1:c.414-37_414-36insTCCCCCCCCCCCCCCC
ENST00000582450.1:n.239_240insTCCCCCCCCCCCCCCC
ENST00000583074.5:n.299+53_299+54insTCCCCCCCCCCCCCCC
ENST00000583848.5:c.64+53_64+54insTCCCCCCCCCCCCCCC	ENSP00000466487.1:n.64+53_64+54insTCCCCCCCCCCCCCCC
ENST00000583850.5:n.450-37_450-36insTCCCCCCCCCCCCCCC
ENST00000583858.5:c.610-37_610-36insTCCCCCCCCCCCCCCC
ENST00000585203.6:n.870-37_870-36insTCCCCCCCCCCCCCCC
NM_000018.3:c.1679-37_1679-36insTCCCCCCCCCCCCCCC	NP_000009.1:n.1679-37_1679-36insTCCCCCCCCCCCCCCC
NM_001033859.2:c.1613-37_1613-36insTCCCCCCCCCCCCCCC	NP_001029031.1:n.1613-37_1613-36insTCCCCCCCCCCCCCCC
NM_001270447.1:c.1748-37_1748-36insTCCCCCCCCCCCCCCC	NP_001257376.1:n.1748-37_1748-36insTCCCCCCCCCCCCCCC
NM_001270448.1:c.1451-37_1451-36insTCCCCCCCCCCCCCCC	NP_001257377.1:n.1451-37_1451-36insTCCCCCCCCCCCCCCC
XM_006721516.2:c.1678+53_1678+54insTCCCCCCCCCCCCCCC	XP_006721579.2:n.1678+53_1678+54insTCCCCCCCCCCCCCCC
XM_011523829.1:c.1576+53_1576+54insTCCCCCCCCCCCCCCC	XP_011522131.1:n.1576+53_1576+54insTCCCCCCCCCCCCCCC
XM_011523830.1:c.1577-37_1577-36insTCCCCCCCCCCCCCCC	XP_011522132.1:n.1577-37_1577-36insTCCCCCCCCCCCCCCC
XR_934021.1:n.1782-37_1782-36insTCCCCCCCCCCCCCCC
XR_934022.1:n.1688-37_1688-36insTCCCCCCCCCCCCCCC
XR_934023.1:n.1687+53_1687+54insTCCCCCCCCCCCCCCC
XM_006721516.3:c.1678+53_1678+54insTCCCCCCCCCCCCCCC	XP_006721579.2:n.1678+53_1678+54insTCCCCCCCCCCCCCCC
XM_011523829.2:c.1576+53_1576+54insTCCCCCCCCCCCCCCC	XP_011522131.1:n.1576+53_1576+54insTCCCCCCCCCCCCCCC
XM_011523830.2:c.1577-37_1577-36insTCCCCCCCCCCCCCCC	XP_011522132.1:n.1577-37_1577-36insTCCCCCCCCCCCCCCC
XM_024450741.1:c.1667-37_1667-36insTCCCCCCCCCCCCCCC	XP_024306509.1:n.1667-37_1667-36insTCCCCCCCCCCCCCCC
XR_934021.2:n.1734-37_1734-36insTCCCCCCCCCCCCCCC
XR_934022.2:n.1640-37_1640-36insTCCCCCCCCCCCCCCC
XR_934023.2:n.1639+53_1639+54insTCCCCCCCCCCCCCCC
NM_000018.4:c.1679-37_1679-36insTCCCCCCCCCCCCCCC MANE Select	NP_000009.1:n.1679-37_1679-36insTCCCCCCCCCCCCCCC
NM_001033859.3:c.1613-37_1613-36insTCCCCCCCCCCCCCCC	NP_001029031.1:n.1613-37_1613-36insTCCCCCCCCCCCCCCC
NM_001270447.2:c.1748-37_1748-36insTCCCCCCCCCCCCCCC	NP_001257376.1:n.1748-37_1748-36insTCCCCCCCCCCCCCCC
NM_001270448.2:c.1451-37_1451-36insTCCCCCCCCCCCCCCC	NP_001257377.1:n.1451-37_1451-36insTCCCCCCCCCCCCCCC