Canonical Allele Identifier: CA2635778033

Linked Data

gnomAD v4: 17-7219832-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219832A>C , CM000679.2:g.7219832A>C GRCh38
NC_000017.10:g.7123151A>C , CM000679.1:g.7123151A>C GRCh37
NC_000017.9:g.7063875A>C NCBI36
NG_007975.1:g.4999A>C
NG_008391.2:g.5219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-983T>G (DLG4) ENSP00000382428.3:n.-983T>G
ENST00000648172.8:c.-983T>G (DLG4) ENSP00000497806.3:n.-983T>G
ENST00000356839.9:c.-153A>C (ACADVL) ENSP00000349297.5:n.-153A>C
ENST00000543245.6:c.132-290A>C (ACADVL) ENSP00000438689.2:n.132-290A>C
NM_000018.3:c.-153A>C (ACADVL) NP_000009.1:n.-153A>C
NM_001033859.2:c.-153A>C (ACADVL) NP_001029031.1:n.-153A>C
NM_001270447.1:c.132-290A>C (ACADVL) NP_001257376.1:n.132-290A>C
NM_001270448.1:c.-456A>C (ACADVL) NP_001257377.1:n.-456A>C
NM_001365.3:c.-983T>G (DLG4) NP_001356.1:n.-983T>G
XM_005256489.2:c.-983T>G (DLG4) XP_005256546.1:n.-983T>G
XM_011523698.1:c.-983T>G (DLG4) XP_011522000.1:n.-983T>G
XR_243545.2:n.17T>G (DLG4)
XR_934005.1:n.17T>G (DLG4)
NM_001321074.1:c.-983T>G (DLG4) NP_001308003.1:n.-983T>G
NM_001365.4:c.-983T>G (DLG4) NP_001356.1:n.-983T>G
NR_135527.1:n.219T>G (DLG4)
XR_934005.2:n.11T>G (DLG4)
NM_001270447.2:c.132-290A>C (ACADVL) NP_001257376.1:n.132-290A>C