Canonical Allele Identifier: CA2245697243

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219892_7219893delinsGA , CM000679.2:g.7219892_7219893delinsGA GRCh38
NC_000017.10:g.7123211_7123212delinsGA , CM000679.1:g.7123211_7123212delinsGA GRCh37
NC_000017.9:g.7063935_7063936delinsGA NCBI36
NG_007975.1:g.5059_5060delinsGA
NG_008391.2:g.5158_5159delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-93_-92delinsGA (ACADVL) ENSP00000325395.5:n.-93_-92delinsGA
ENST00000350303.9:c.-93_-92delinsGA (ACADVL) ENSP00000344152.5:n.-93_-92delinsGA
ENST00000356839.9:c.-93_-92delinsGA (ACADVL) ENSP00000349297.5:n.-93_-92delinsGA
ENST00000543245.6:c.132-230_132-229delinsGA (ACADVL) ENSP00000438689.2:n.132-230_132-229delinsGA
ENST00000578269.5:n.15_16delinsGA (ACADVL)
ENST00000579286.5:n.15_16delinsGA (ACADVL)
ENST00000582356.5:n.33_34delinsGA (ACADVL)
ENST00000583312.5:c.-93_-92delinsGA (ACADVL) ENSP00000467920.1:n.-93_-92delinsGA
NM_000018.3:c.-93_-92delinsGA (ACADVL) NP_000009.1:n.-93_-92delinsGA
NM_001033859.2:c.-93_-92delinsGA (ACADVL) NP_001029031.1:n.-93_-92delinsGA
NM_001270447.1:c.132-230_132-229delinsGA (ACADVL) NP_001257376.1:n.132-230_132-229delinsGA
NM_001270448.1:c.-396_-395delinsGA (ACADVL) NP_001257377.1:n.-396_-395delinsGA
NM_001365.3:c.-1044_-1043delinsTC (DLG4) NP_001356.1:n.-1044_-1043delinsTC
XM_006721516.2:c.-93_-92delinsGA (ACADVL) XP_006721579.2:n.-93_-92delinsGA
XM_011523829.1:c.-93_-92delinsGA (ACADVL) XP_011522131.1:n.-93_-92delinsGA
XM_011523830.1:c.-93_-92delinsGA (ACADVL) XP_011522132.1:n.-93_-92delinsGA
XR_934021.1:n.15_16delinsGA (ACADVL)
XR_934022.1:n.15_16delinsGA (ACADVL)
XR_934023.1:n.15_16delinsGA (ACADVL)
NM_001321074.1:c.-1044_-1043delinsTC (DLG4) NP_001308003.1:n.-1044_-1043delinsTC
NM_001365.4:c.-1044_-1043delinsTC (DLG4) NP_001356.1:n.-1044_-1043delinsTC
NR_135527.1:n.158_159delinsTC (DLG4)
NM_001270447.2:c.132-230_132-229delinsGA (ACADVL) NP_001257376.1:n.132-230_132-229delinsGA