Canonical Allele Identifier: CA2644085060

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 2817167
• ClinVar RCV Id: RCV003625280
• gnomAD v4: 1-23804381-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23804386del , CM000663.2:g.23804386del	GRCh38
NC_000001.10:g.24130876del , CM000663.1:g.24130876del	GRCh37
NC_000001.9:g.24003463del	NCBI36
NG_007068.1:g.1423del
NG_013061.1:g.26078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.876+18del MANE Select	ENSP00000363614.3:n.876+18del
ENST00000235958.4:c.446+18del
ENST00000374487.6:c.*917+18del	ENSP00000363611.2:n.*917+18del
ENST00000374490.7:c.876+18del	ENSP00000363614.3:n.876+18del
ENST00000436439.6:c.663+18del	ENSP00000389281.2:n.663+18del
ENST00000509389.5:n.585del
NM_000191.2:c.876+18del	NP_000182.2:n.876+18del
NM_001166059.1:c.663+18del	NP_001159531.1:n.663+18del
NM_000191.3:c.876+18del MANE Select	NP_000182.2:n.876+18del
NM_001166059.2:c.663+18del	NP_001159531.1:n.663+18del