Canonical Allele Identifier: CA2644076008

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23808041-CTGGCATCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808042_23808049del , CM000663.2:g.23808042_23808049del	GRCh38
NC_000001.10:g.24134532_24134539del , CM000663.1:g.24134532_24134539del	GRCh37
NC_000001.9:g.24007119_24007126del	NCBI36
NG_013061.1:g.22411_22418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+86_750+93del MANE Select	ENSP00000363614.3:n.750+86_750+93del
ENST00000235958.4:c.320+86_320+93del
ENST00000374487.6:c.*791+86_*791+93del	ENSP00000363611.2:n.*791+86_*791+93del
ENST00000374490.7:c.750+86_750+93del	ENSP00000363614.3:n.750+86_750+93del
ENST00000436439.6:c.537+86_537+93del	ENSP00000389281.2:n.537+86_537+93del
ENST00000496907.1:n.385+86_385+93del
ENST00000509389.5:n.441+86_441+93del
NM_000191.2:c.750+86_750+93del	NP_000182.2:n.750+86_750+93del
NM_001166059.1:c.537+86_537+93del	NP_001159531.1:n.537+86_537+93del
NM_000191.3:c.750+86_750+93del MANE Select	NP_000182.2:n.750+86_750+93del
NM_001166059.2:c.537+86_537+93del	NP_001159531.1:n.537+86_537+93del