Canonical Allele Identifier: CA2644076264

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23808155-T-TGGCCAGGGCTTGACCATAGGTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808156_23808179dup , CM000663.2:g.23808156_23808179dup	GRCh38
NC_000001.10:g.24134646_24134669dup , CM000663.1:g.24134646_24134669dup	GRCh37
NC_000001.9:g.24007233_24007256dup	NCBI36
NG_013061.1:g.22281_22304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.706_729dup MANE Select	ENSP00000363614.3:p.Ala243_Asn244insAspThrTyrGlyGlnAlaLeuAla
ENST00000235958.4:c.276_299dup
ENST00000374487.6:c.*747_*770dup	ENSP00000363611.2:n.*747_*770dup
ENST00000374490.7:c.706_729dup	ENSP00000363614.3:p.Ala243_Asn244insAspThrTyrGlyGlnAlaLeuAla
ENST00000436439.6:c.493_516dup	ENSP00000389281.2:p.Ala172_Asn173insAspThrTyrGlyGlnAlaLeuAla
ENST00000496907.1:n.341_364dup
ENST00000509389.5:n.397_420dup
NM_000191.2:c.706_729dup	NP_000182.2:p.Ala243_Asn244insAspThrTyrGlyGlnAlaLeuAla
NM_001166059.1:c.493_516dup	NP_001159531.1:p.Ala172_Asn173insAspThrTyrGlyGlnAlaLeuAla
NM_000191.3:c.706_729dup MANE Select	NP_000182.2:p.Ala243_Asn244insAspThrTyrGlyGlnAlaLeuAla
NM_001166059.2:c.493_516dup	NP_001159531.1:p.Ala172_Asn173insAspThrTyrGlyGlnAlaLeuAla