Canonical Allele Identifier: CA2985145
Gene: HNRNPDL HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.82429581T>G
GRCh38 chr4:g.82429581_82429590delinsGGCCGCGGCG
GRCh37 chr4:g.83350734T>G
GRCh37 chr4:g.83350734_83350743delinsGGCCGCGGCG
Revel Score:
ENST00000295470 (MANE Select) 0.191
ENST00000502762 0.191
gnomAD v2:
4:83350734 T / G
gnomAD v3:
4:82429581 T / G
gnomAD v4:
chr4-82429581-T-G
Joint Max Group AF 0.00120357 (NFE)
Genomes Max Group AF 0.00089362 (NFE)
Exomes Max Group AF 0.00121199 (NFE)
ClinVar RCV:
RCV000540408
RCV004023980
ClinVar Variation:
464378
dbSNP:
911762606
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.82429581T>G , CM000666.2:g.82429581T>G GRCh38
NC_000004.11:g.83350734T>G , CM000666.1:g.83350734T>G GRCh37
NC_000004.10:g.83569758T>G NCBI36
NG_029681.1:g.5645A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295470.10:c.110A>C MANE Select ENSP00000295470.5:p.Gln37Pro
ENST00000295470.9:c.110A>C ENSP00000295470.5:p.Gln37Pro
ENST00000502762.4:c.110A>C ENSP00000422040.1:p.Gln37Pro
ENST00000614627.4:c.110A>C ENSP00000478723.1:p.Gln37Pro
ENST00000621267.4:c.110A>C ENSP00000483254.1:p.Gln37Pro
ENST00000630114.2:c.-79-169A>C ENSP00000486452.1:n.-79-169A>C
ENST00000630827.1:c.-79-169A>C ENSP00000485954.1:n.-79-169A>C
NM_001207000.1:c.110A>C NP_001193929.1:p.Gln37Pro
NM_031372.3:c.110A>C NP_112740.1:p.Gln37Pro
NR_003249.2:n.645A>C
NM_031372.4:c.110A>C MANE Select NP_112740.1:p.Gln37Pro
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