Canonical Allele Identifier: CA2635781408
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221747-T-TTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221751_7221842dup , CM000679.2:g.7221751_7221842dup GRCh38
NC_000017.10:g.7125070_7125161dup , CM000679.1:g.7125070_7125161dup GRCh37
NC_000017.9:g.7065794_7065885dup NCBI36
NG_007975.1:g.6918_7009dup
NG_008391.2:g.3212_3303dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.622+69_623-110dup MANE Select ENSP00000349297.5:n.622+69_623-110dup
ENST00000322910.9:c.*577+69_*578-110dup ENSP00000325395.5:n.*577+69_*578-110dup
ENST00000350303.9:c.556+69_557-110dup ENSP00000344152.5:n.556+69_557-110dup
ENST00000356839.9:c.622+69_623-110dup ENSP00000349297.5:n.622+69_623-110dup
ENST00000543245.6:c.691+69_692-110dup ENSP00000438689.2:n.691+69_692-110dup
ENST00000577191.5:n.699+69_700-110dup
ENST00000577857.5:n.438+69_439-110dup
ENST00000579286.5:n.803+69_804-110dup
ENST00000579886.2:c.460+69_461-110dup ENSP00000463246.1:n.460+69_461-110dup
ENST00000580365.1:n.353+69_354-110dup
ENST00000581378.5:c.340+69_341-110dup
ENST00000581562.5:n.525-201_525-110dup
ENST00000583312.5:c.622+69_623-95dup ENSP00000467920.1:n.622+69_623-95dup
ENST00000583760.1:n.404+69_405-110dup
NM_000018.3:c.622+69_623-110dup NP_000009.1:n.622+69_623-110dup
NM_001033859.2:c.556+69_557-110dup NP_001029031.1:n.556+69_557-110dup
NM_001270447.1:c.691+69_692-110dup NP_001257376.1:n.691+69_692-110dup
NM_001270448.1:c.394+69_395-110dup NP_001257377.1:n.394+69_395-110dup
XM_006721516.2:c.622+69_623-110dup XP_006721579.2:n.622+69_623-110dup
XM_011523829.1:c.622+69_623-110dup XP_011522131.1:n.622+69_623-110dup
XM_011523830.1:c.622+69_623-110dup XP_011522132.1:n.622+69_623-110dup
XR_934021.1:n.729+69_730-110dup
XR_934022.1:n.729+69_730-110dup
XR_934023.1:n.729+69_730-110dup
XM_006721516.3:c.622+69_623-110dup XP_006721579.2:n.622+69_623-110dup
XM_011523829.2:c.622+69_623-110dup XP_011522131.1:n.622+69_623-110dup
XM_011523830.2:c.622+69_623-110dup XP_011522132.1:n.622+69_623-110dup
XM_024450741.1:c.622+69_623-110dup XP_024306509.1:n.622+69_623-110dup
XR_934021.2:n.681+69_682-110dup
XR_934022.2:n.681+69_682-110dup
XR_934023.2:n.681+69_682-110dup
NM_000018.4:c.622+69_623-110dup MANE Select NP_000009.1:n.622+69_623-110dup
NM_001033859.3:c.556+69_557-110dup NP_001029031.1:n.556+69_557-110dup
NM_001270447.2:c.691+69_692-110dup NP_001257376.1:n.691+69_692-110dup
NM_001270448.2:c.394+69_395-110dup NP_001257377.1:n.394+69_395-110dup
Search 100 bp 5'
Search 100 bp 3'