Canonical Allele Identifier: CA2695223070

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219841_7219853delinsT , CM000679.2:g.7219841_7219853delinsT GRCh38
NC_000017.10:g.7123160_7123172delinsT , CM000679.1:g.7123160_7123172delinsT GRCh37
NC_000017.9:g.7063884_7063896delinsT NCBI36
NG_007975.1:g.5008_5020delinsT
NG_008391.2:g.5198_5210delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.9:c.-144_-132delinsT (ACADVL) ENSP00000349297.5:n.-144_-132delinsT
ENST00000543245.6:c.132-281_132-269delinsT (ACADVL) ENSP00000438689.2:n.132-281_132-269delinsT
NM_000018.3:c.-144_-132delinsT (ACADVL) NP_000009.1:n.-144_-132delinsT
NM_001033859.2:c.-144_-132delinsT (ACADVL) NP_001029031.1:n.-144_-132delinsT
NM_001270447.1:c.132-281_132-269delinsT (ACADVL) NP_001257376.1:n.132-281_132-269delinsT
NM_001270448.1:c.-447_-435delinsT (ACADVL) NP_001257377.1:n.-447_-435delinsT
NM_001365.3:c.-1004_-992delinsA (DLG4) NP_001356.1:n.-1004_-992delinsA
NM_001321074.1:c.-1004_-992delinsA (DLG4) NP_001308003.1:n.-1004_-992delinsA
NM_001365.4:c.-1004_-992delinsA (DLG4) NP_001356.1:n.-1004_-992delinsA
NR_135527.1:n.198_210delinsA (DLG4)
NM_001270447.2:c.132-281_132-269delinsT (ACADVL) NP_001257376.1:n.132-281_132-269delinsT