Canonical Allele Identifier: CA2580061685
Gene: HMGCL HGNC NCBI

Linked Data

ClinVar Variation Id: 2096036
ClinVar RCV Id: RCV003006018

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23804370_23804403del , CM000663.2:g.23804370_23804403del GRCh38
NC_000001.10:g.24130860_24130893del , CM000663.1:g.24130860_24130893del GRCh37
NC_000001.9:g.24003447_24003480del NCBI36
NG_007068.1:g.1403_1436del
NG_013061.1:g.26058_26091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.874_876+31del
ENST00000235958.4:c.444_446+31del
ENST00000374487.6:c.*915_*917+31del
ENST00000374490.7:c.874_876+31del
ENST00000436439.6:c.661_663+31del
ENST00000509389.5:n.565_598del
NM_000191.2:c.874_876+31del
NM_001166059.1:c.661_663+31del
NM_000191.3:c.874_876+31del
NM_001166059.2:c.661_663+31del