Canonical Allele Identifier: CA287436379
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs757395724
MyVariant Identifiers: chr17:g.7124923_7124924insAG (hg19) chr17:g.7221604_7221605insAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221607_7221608dup , CM000679.2:g.7221607_7221608dup GRCh38
NC_000017.10:g.7124926_7124927dup , CM000679.1:g.7124926_7124927dup GRCh37
NC_000017.9:g.7065650_7065651dup NCBI36
NG_007975.1:g.6774_6775dup
NG_008391.2:g.3445_3446dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.547_548dup MANE Select ENSP00000349297.5:p.Ser183ArgfsTer?
ENST00000322910.9:c.*502_*503dup ENSP00000325395.5:n.*502_*503dup
ENST00000350303.9:c.481_482dup ENSP00000344152.5:p.Ser161ArgfsTer?
ENST00000356839.9:c.547_548dup ENSP00000349297.5:p.Ser183ArgfsTer?
ENST00000543245.6:c.616_617dup ENSP00000438689.2:p.Ser206ArgfsTer?
ENST00000577191.5:n.624_625dup
ENST00000577433.5:n.755_756dup
ENST00000577857.5:n.363_364dup
ENST00000579286.5:n.728_729dup
ENST00000579886.2:c.385_386dup ENSP00000463246.1:p.Ser129ArgfsTer?
ENST00000580365.1:n.278_279dup
ENST00000581378.5:c.265_266dup
ENST00000581562.5:n.525-345_525-344dup
ENST00000582166.1:n.528_529dup
ENST00000583312.5:c.547_548dup ENSP00000467920.1:p.Ser183ArgfsTer?
ENST00000583760.1:n.329_330dup
NM_000018.3:c.547_548dup NP_000009.1:p.Ser183ArgfsTer?
NM_001033859.2:c.481_482dup NP_001029031.1:p.Ser161ArgfsTer?
NM_001270447.1:c.616_617dup NP_001257376.1:p.Ser206ArgfsTer?
NM_001270448.1:c.319_320dup NP_001257377.1:p.Ser107ArgfsTer?
XM_006721516.2:c.547_548dup XP_006721579.2:p.Ser183ArgfsTer?
XM_011523829.1:c.547_548dup XP_011522131.1:p.Ser183ArgfsTer?
XM_011523830.1:c.547_548dup XP_011522132.1:p.Ser183ArgfsTer?
XR_934021.1:n.654_655dup
XR_934022.1:n.654_655dup
XR_934023.1:n.654_655dup
XM_006721516.3:c.547_548dup XP_006721579.2:p.Ser183ArgfsTer?
XM_011523829.2:c.547_548dup XP_011522131.1:p.Ser183ArgfsTer?
XM_011523830.2:c.547_548dup XP_011522132.1:p.Ser183ArgfsTer?
XM_024450741.1:c.547_548dup XP_024306509.1:p.Ser183ArgfsTer?
XR_934021.2:n.606_607dup
XR_934022.2:n.606_607dup
XR_934023.2:n.606_607dup
NM_000018.4:c.547_548dup MANE Select NP_000009.1:p.Ser183ArgfsTer?
NM_001033859.3:c.481_482dup NP_001029031.1:p.Ser161ArgfsTer?
NM_001270447.2:c.616_617dup NP_001257376.1:p.Ser206ArgfsTer?
NM_001270448.2:c.319_320dup NP_001257377.1:p.Ser107ArgfsTer?
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