Canonical Allele Identifier: CA733293244

Gene: HMGCL

Linked Data

• dbSNP Id: rs1363168562
• gnomAD v3: 1-23808045-C-CA
• gnomAD v4: 1-23808045-C-CA
• MyVariant Identifiers: chr1:g.24134535_24134536insA (hg19) ; chr1:g.23808045_23808046insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808046dup , CM000663.2:g.23808046dup	GRCh38
NC_000001.10:g.24134536dup , CM000663.1:g.24134536dup	GRCh37
NC_000001.9:g.24007123dup	NCBI36
NG_013061.1:g.22414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+89dup MANE Select	ENSP00000363614.3:n.750+89dup
ENST00000235958.4:c.320+89dup
ENST00000374487.6:c.*791+89dup	ENSP00000363611.2:n.*791+89dup
ENST00000374490.7:c.750+89dup	ENSP00000363614.3:n.750+89dup
ENST00000436439.6:c.537+89dup	ENSP00000389281.2:n.537+89dup
ENST00000496907.1:n.385+89dup
ENST00000509389.5:n.441+89dup
NM_000191.2:c.750+89dup	NP_000182.2:n.750+89dup
NM_001166059.1:c.537+89dup	NP_001159531.1:n.537+89dup
NM_000191.3:c.750+89dup MANE Select	NP_000182.2:n.750+89dup
NM_001166059.2:c.537+89dup	NP_001159531.1:n.537+89dup