Canonical Allele Identifier: CA733351042

Gene: HMGCL

Linked Data

• dbSNP Id: rs1217163879
• gnomAD v4: 1-23820457-AC-A
• MyVariant Identifiers: chr1:g.24146948del (hg19) ; chr1:g.23820458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23820458del , CM000663.2:g.23820458del	GRCh38
NC_000001.10:g.24146948del , CM000663.1:g.24146948del	GRCh37
NC_000001.9:g.24019535del	NCBI36
NG_013061.1:g.10002del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.144+52del MANE Select	ENSP00000363614.3:n.144+52del
ENST00000235958.4:c.131+52del
ENST00000374487.6:c.*185+52del	ENSP00000363611.2:n.*185+52del
ENST00000374490.7:c.144+52del	ENSP00000363614.3:n.144+52del
ENST00000436439.6:c.144+52del	ENSP00000389281.2:n.144+52del
ENST00000509389.5:n.156+52del
ENST00000513148.1:n.145+52del
NM_000191.2:c.144+52del	NP_000182.2:n.144+52del
NM_001166059.1:c.144+52del	NP_001159531.1:n.144+52del
NM_000191.3:c.144+52del MANE Select	NP_000182.2:n.144+52del
NM_001166059.2:c.144+52del	NP_001159531.1:n.144+52del