Canonical Allele Identifier: CA2635777990

Linked Data

gnomAD v4: 17-7219819-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219819C>A , CM000679.2:g.7219819C>A GRCh38
NC_000017.10:g.7123138C>A , CM000679.1:g.7123138C>A GRCh37
NC_000017.9:g.7063862C>A NCBI36
NG_007975.1:g.4986C>A
NG_008391.2:g.5232G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-970G>T (DLG4) ENSP00000382428.3:n.-970G>T
ENST00000648172.8:c.-970G>T (DLG4) ENSP00000497806.3:n.-970G>T
ENST00000356839.9:c.-166C>A (ACADVL) ENSP00000349297.5:n.-166C>A
ENST00000543245.6:c.132-303C>A (ACADVL) ENSP00000438689.2:n.132-303C>A
NM_001270447.1:c.132-303C>A (ACADVL) NP_001257376.1:n.132-303C>A
NM_001365.3:c.-970G>T (DLG4) NP_001356.1:n.-970G>T
XM_005256489.2:c.-970G>T (DLG4) XP_005256546.1:n.-970G>T
XM_011523698.1:c.-970G>T (DLG4) XP_011522000.1:n.-970G>T
XM_011523699.1:c.-240G>T (DLG4) XP_011522001.1:n.-240G>T
XR_243545.2:n.30G>T (DLG4)
XR_934005.1:n.30G>T (DLG4)
NM_001321074.1:c.-970G>T (DLG4) NP_001308003.1:n.-970G>T
NM_001365.4:c.-970G>T (DLG4) NP_001356.1:n.-970G>T
NR_135527.1:n.232G>T (DLG4)
XM_011523699.2:c.-240G>T (DLG4) XP_011522001.1:n.-240G>T
XR_934005.2:n.24G>T (DLG4)
NM_001270447.2:c.132-303C>A (ACADVL) NP_001257376.1:n.132-303C>A