Canonical Allele Identifier: CA287433470

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219937_7219938insCA , CM000679.2:g.7219937_7219938insCA GRCh38
NC_000017.10:g.7123256_7123257insCA , CM000679.1:g.7123256_7123257insCA GRCh37
NC_000017.9:g.7063980_7063981insCA NCBI36
NG_007975.1:g.5104_5105insCA
NG_008391.2:g.5113_5114insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.-47-1_-47insCA (ACADVL) MANE Select ENSP00000349297.5:n.-47-1_-47insCA
ENST00000322910.9:c.-48_-47insCA (ACADVL) ENSP00000325395.5:n.-48_-47insCA
ENST00000350303.9:c.-48_-47insCA (ACADVL) ENSP00000344152.5:n.-48_-47insCA
ENST00000356839.9:c.-48_-47insCA (ACADVL) ENSP00000349297.5:n.-48_-47insCA
ENST00000543245.6:c.132-185_132-184insCA (ACADVL) ENSP00000438689.2:n.132-185_132-184insCA
ENST00000577191.5:n.30_31insCA (ACADVL)
ENST00000577857.5:n.43_44insCA (ACADVL)
ENST00000578269.5:n.60_61insCA (ACADVL)
ENST00000578421.1:n.12_13insCA (ACADVL)
ENST00000579286.5:n.60_61insCA (ACADVL)
ENST00000580263.5:n.43_44insCA (ACADVL)
ENST00000581562.5:n.1-1_1insCA (ACADVL)
ENST00000582056.5:n.43_44insCA (ACADVL)
ENST00000582356.5:n.78_79insCA (ACADVL)
ENST00000583312.5:c.-48_-47insCA (ACADVL) ENSP00000467920.1:n.-48_-47insCA
ENST00000584103.5:c.-48_-47insCA (ACADVL) ENSP00000465353.1:n.-48_-47insCA
NM_000018.3:c.-48_-47insCA (ACADVL) NP_000009.1:n.-48_-47insCA
NM_001033859.2:c.-48_-47insCA (ACADVL) NP_001029031.1:n.-48_-47insCA
NM_001270447.1:c.132-185_132-184insCA (ACADVL) NP_001257376.1:n.132-185_132-184insCA
NM_001270448.1:c.-351_-350insCA (ACADVL) NP_001257377.1:n.-351_-350insCA
NM_001365.3:c.-1089_-1088insTG (DLG4) NP_001356.1:n.-1089_-1088insTG
XM_006721516.2:c.-48_-47insCA (ACADVL) XP_006721579.2:n.-48_-47insCA
XM_011523829.1:c.-48_-47insCA (ACADVL) XP_011522131.1:n.-48_-47insCA
XM_011523830.1:c.-48_-47insCA (ACADVL) XP_011522132.1:n.-48_-47insCA
XR_934021.1:n.60_61insCA (ACADVL)
XR_934022.1:n.60_61insCA (ACADVL)
XR_934023.1:n.60_61insCA (ACADVL)
NM_001321074.1:c.-1089_-1088insTG (DLG4) NP_001308003.1:n.-1089_-1088insTG
NM_001365.4:c.-1089_-1088insTG (DLG4) NP_001356.1:n.-1089_-1088insTG
NR_135527.1:n.113_114insTG (DLG4)
XM_006721516.3:c.-48_-47insCA (ACADVL) XP_006721579.2:n.-48_-47insCA
XM_011523829.2:c.-48_-47insCA (ACADVL) XP_011522131.1:n.-48_-47insCA
XM_011523830.2:c.-48_-47insCA (ACADVL) XP_011522132.1:n.-48_-47insCA
XM_024450741.1:c.-48_-47insCA (ACADVL) XP_024306509.1:n.-48_-47insCA
XR_934021.2:n.12_13insCA (ACADVL)
XR_934022.2:n.12_13insCA (ACADVL)
XR_934023.2:n.12_13insCA (ACADVL)
NM_000018.4:c.-47-1_-47insCA (ACADVL) MANE Select NP_000009.1:n.-47-1_-47insCA
NM_001033859.3:c.-47-1_-47insCA (ACADVL) NP_001029031.1:n.-47-1_-47insCA
NM_001270447.2:c.132-185_132-184insCA (ACADVL) NP_001257376.1:n.132-185_132-184insCA
NM_001270448.2:c.-350-1_-350insCA (ACADVL) NP_001257377.1:n.-350-1_-350insCA