Canonical Allele Identifier: CA2245697208

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219848_7219853delinsTGCCCC , CM000679.2:g.7219848_7219853delinsTGCCCC GRCh38
NC_000017.10:g.7123167_7123172delinsTGCCCC , CM000679.1:g.7123167_7123172delinsTGCCCC GRCh37
NC_000017.9:g.7063891_7063896delinsTGCCCC NCBI36
NG_007975.1:g.5015_5020delinsTGCCCC
NG_008391.2:g.5198_5203delinsGGGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-137_-132delinsTGCCCC (ACADVL) ENSP00000325395.5:n.-137_-132delinsTGCCCC
ENST00000356839.9:c.-137_-132delinsTGCCCC (ACADVL) ENSP00000349297.5:n.-137_-132delinsTGCCCC
ENST00000543245.6:c.132-274_132-269delinsTGCCCC (ACADVL) ENSP00000438689.2:n.132-274_132-269delinsTGCCCC
NM_000018.3:c.-137_-132delinsTGCCCC (ACADVL) NP_000009.1:n.-137_-132delinsTGCCCC
NM_001033859.2:c.-137_-132delinsTGCCCC (ACADVL) NP_001029031.1:n.-137_-132delinsTGCCCC
NM_001270447.1:c.132-274_132-269delinsTGCCCC (ACADVL) NP_001257376.1:n.132-274_132-269delinsTGCCCC
NM_001270448.1:c.-440_-435delinsTGCCCC (ACADVL) NP_001257377.1:n.-440_-435delinsTGCCCC
NM_001365.3:c.-1004_-999delinsGGGGCA (DLG4) NP_001356.1:n.-1004_-999delinsGGGGCA
NM_001321074.1:c.-1004_-999delinsGGGGCA (DLG4) NP_001308003.1:n.-1004_-999delinsGGGGCA
NM_001365.4:c.-1004_-999delinsGGGGCA (DLG4) NP_001356.1:n.-1004_-999delinsGGGGCA
NR_135527.1:n.198_203delinsGGGGCA (DLG4)
NM_001270447.2:c.132-274_132-269delinsTGCCCC (ACADVL) NP_001257376.1:n.132-274_132-269delinsTGCCCC