Canonical Allele Identifier: CA2574262976

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808086_23808087insAAAGG , CM000663.2:g.23808086_23808087insAAAGG	GRCh38
NC_000001.10:g.24134576_24134577insAAAGG , CM000663.1:g.24134576_24134577insAAAGG	GRCh37
NC_000001.9:g.24007163_24007164insAAAGG	NCBI36
NG_013061.1:g.22374_22375insCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+49_750+50insCTTTC MANE Select	ENSP00000363614.3:n.750+49_750+50insCTTTC
ENST00000235958.4:c.320+49_320+50insCTTTC
ENST00000374487.6:c.*791+49_*791+50insCTTTC	ENSP00000363611.2:n.*791+49_*791+50insCTTTC
ENST00000374490.7:c.750+49_750+50insCTTTC	ENSP00000363614.3:n.750+49_750+50insCTTTC
ENST00000436439.6:c.537+49_537+50insCTTTC	ENSP00000389281.2:n.537+49_537+50insCTTTC
ENST00000496907.1:n.385+49_385+50insCTTTC
ENST00000509389.5:n.441+49_441+50insCTTTC
NM_000191.2:c.750+49_750+50insCTTTC	NP_000182.2:n.750+49_750+50insCTTTC
NM_001166059.1:c.537+49_537+50insCTTTC	NP_001159531.1:n.537+49_537+50insCTTTC
NM_000191.3:c.750+49_750+50insCTTTC MANE Select	NP_000182.2:n.750+49_750+50insCTTTC
NM_001166059.2:c.537+49_537+50insCTTTC	NP_001159531.1:n.537+49_537+50insCTTTC