Canonical Allele Identifier: CA2635778042

Linked Data

gnomAD v4: 17-7219838-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219838G>T , CM000679.2:g.7219838G>T GRCh38
NC_000017.10:g.7123157G>T , CM000679.1:g.7123157G>T GRCh37
NC_000017.9:g.7063881G>T NCBI36
NG_007975.1:g.5005G>T
NG_008391.2:g.5213C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648172.8:c.-989C>A (DLG4) ENSP00000497806.3:n.-989C>A
ENST00000356839.9:c.-147G>T (ACADVL) ENSP00000349297.5:n.-147G>T
ENST00000543245.6:c.132-284G>T (ACADVL) ENSP00000438689.2:n.132-284G>T
NM_000018.3:c.-147G>T (ACADVL) NP_000009.1:n.-147G>T
NM_001033859.2:c.-147G>T (ACADVL) NP_001029031.1:n.-147G>T
NM_001270447.1:c.132-284G>T (ACADVL) NP_001257376.1:n.132-284G>T
NM_001270448.1:c.-450G>T (ACADVL) NP_001257377.1:n.-450G>T
NM_001365.3:c.-989C>A (DLG4) NP_001356.1:n.-989C>A
XM_005256489.2:c.-989C>A (DLG4) XP_005256546.1:n.-989C>A
XM_011523698.1:c.-989C>A (DLG4) XP_011522000.1:n.-989C>A
XR_243545.2:n.11C>A (DLG4)
XR_934005.1:n.11C>A (DLG4)
NM_001321074.1:c.-989C>A (DLG4) NP_001308003.1:n.-989C>A
NM_001365.4:c.-989C>A (DLG4) NP_001356.1:n.-989C>A
NR_135527.1:n.213C>A (DLG4)
XR_934005.2:n.5C>A (DLG4)
NM_001270447.2:c.132-284G>T (ACADVL) NP_001257376.1:n.132-284G>T