Canonical Allele Identifier: CA256129
Gene: HMGCL HGNC NCBI
gnomAD v2:
1:24144010 CAG / C
gnomAD v3:
1:23817520 CAG / C
gnomAD v4:
chr1-23817520-CAG-C
Joint Max Group AF 0.00007506 (SAS)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00007124 (SAS)
ClinVar RCV:
RCV000012732
RCV000185970
ClinVar Variation:
11954
dbSNP:
752137615
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817525_23817526del , CM000663.2:g.23817525_23817526del GRCh38
NC_000001.10:g.24144015_24144016del , CM000663.1:g.24144015_24144016del GRCh37
NC_000001.9:g.24016602_24016603del NCBI36
NG_013061.1:g.12938_12939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.206_207del MANE Select ENSP00000363614.3:p.Ser69CysfsTer11
ENST00000235958.4:c.131+2988_131+2989del
ENST00000374487.6:c.*247_*248del ENSP00000363611.2:n.*247_*248del
ENST00000374490.7:c.206_207del ENSP00000363614.3:p.Ser69CysfsTer11
ENST00000436439.6:c.206_207del ENSP00000389281.2:p.Ser69CysfsTer11
ENST00000498698.1:n.12_13del
ENST00000509389.5:n.218_219del
ENST00000513148.1:n.207_208del
NM_000191.2:c.206_207del NP_000182.2:p.Ser69CysfsTer11
NM_001166059.1:c.206_207del NP_001159531.1:p.Ser69CysfsTer11
NM_000191.3:c.206_207del MANE Select NP_000182.2:p.Ser69CysfsTer11
NM_001166059.2:c.206_207del NP_001159531.1:p.Ser69CysfsTer11
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