Canonical Allele Identifier: CA2985143
Gene: HNRNPDL HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.82429578A>G
GRCh38 chr4:g.82429578_82429593delinsGGCTGCCGCGGCGGCC
GRCh37 chr4:g.83350731A>G
GRCh37 chr4:g.83350731_83350746delinsGGCTGCCGCGGCGGCC
Revel Score:
ENST00000295470 (MANE Select) 0.156
ENST00000502762 0.156
gnomAD v2:
4:83350731 A / G
gnomAD v3:
4:82429578 A / G
gnomAD v4:
chr4-82429578-A-G
Joint Max Group AF 0.00122762 (NFE)
Genomes Max Group AF 0.00087874 (NFE)
Exomes Max Group AF 0.00123968 (NFE)
ClinVar RCV:
RCV000552897
RCV004023981
ClinVar Variation:
464379
dbSNP:
373042980
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.82429578A>G , CM000666.2:g.82429578A>G GRCh38
NC_000004.11:g.83350731A>G , CM000666.1:g.83350731A>G GRCh37
NC_000004.10:g.83569755A>G NCBI36
NG_029681.1:g.5648T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295470.10:c.113T>C MANE Select ENSP00000295470.5:p.Leu38Pro
ENST00000295470.9:c.113T>C ENSP00000295470.5:p.Leu38Pro
ENST00000502762.4:c.113T>C ENSP00000422040.1:p.Leu38Pro
ENST00000614627.4:c.113T>C ENSP00000478723.1:p.Leu38Pro
ENST00000621267.4:c.113T>C ENSP00000483254.1:p.Leu38Pro
ENST00000630114.2:c.-79-166T>C ENSP00000486452.1:n.-79-166T>C
ENST00000630827.1:c.-79-166T>C ENSP00000485954.1:n.-79-166T>C
NM_001207000.1:c.113T>C NP_001193929.1:p.Leu38Pro
NM_031372.3:c.113T>C NP_112740.1:p.Leu38Pro
NR_003249.2:n.648T>C
NM_031372.4:c.113T>C MANE Select NP_112740.1:p.Leu38Pro
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