Canonical Allele Identifier: CA339023014

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.23808099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808099del , CM000663.2:g.23808099del	GRCh38
NC_000001.10:g.24134589del , CM000663.1:g.24134589del	GRCh37
NC_000001.9:g.24007176del	NCBI36
NG_013061.1:g.22361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+36del MANE Select	ENSP00000363614.3:n.750+36del
ENST00000235958.4:c.320+36del
ENST00000374487.6:c.*791+36del	ENSP00000363611.2:n.*791+36del
ENST00000374490.7:c.750+36del	ENSP00000363614.3:n.750+36del
ENST00000436439.6:c.537+36del	ENSP00000389281.2:n.537+36del
ENST00000496907.1:n.385+36del
ENST00000509389.5:n.441+36del
NM_000191.2:c.750+36del	NP_000182.2:n.750+36del
NM_001166059.1:c.537+36del	NP_001159531.1:n.537+36del
NM_000191.3:c.750+36del MANE Select	NP_000182.2:n.750+36del
NM_001166059.2:c.537+36del	NP_001159531.1:n.537+36del