Canonical Allele Identifier: CA733293403

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 2676031
• ClinVar RCV Id: RCV003476433
• dbSNP Id: rs1226874636
• gnomAD v3: 1-23808179-C-CAT
• gnomAD v4: 1-23808179-C-CAT
• MyVariant Identifiers: chr1:g.24134669_24134670insAT (hg19) ; chr1:g.23808179_23808180insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808180_23808181dup , CM000663.2:g.23808180_23808181dup	GRCh38
NC_000001.10:g.24134670_24134671dup , CM000663.1:g.24134670_24134671dup	GRCh37
NC_000001.9:g.24007257_24007258dup	NCBI36
NG_013061.1:g.22279_22280dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.704_705dup MANE Select	ENSP00000363614.3:p.Asp236MetfsTer12
ENST00000235958.4:c.274_275dup
ENST00000374487.6:c.*745_*746dup	ENSP00000363611.2:n.*745_*746dup
ENST00000374490.7:c.704_705dup	ENSP00000363614.3:p.Asp236MetfsTer12
ENST00000436439.6:c.491_492dup	ENSP00000389281.2:p.Asp165MetfsTer12
ENST00000496907.1:n.339_340dup
ENST00000509389.5:n.395_396dup
NM_000191.2:c.704_705dup	NP_000182.2:p.Asp236MetfsTer12
NM_001166059.1:c.491_492dup	NP_001159531.1:p.Asp165MetfsTer12
NM_000191.3:c.704_705dup MANE Select	NP_000182.2:p.Asp236MetfsTer12
NM_001166059.2:c.491_492dup	NP_001159531.1:p.Asp165MetfsTer12