Canonical Allele Identifier: CA1158966089

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808077_23808080delinsTAAC , CM000663.2:g.23808077_23808080delinsTAAC	GRCh38
NC_000001.10:g.24134567_24134570delinsTAAC , CM000663.1:g.24134567_24134570delinsTAAC	GRCh37
NC_000001.9:g.24007154_24007157delinsTAAC	NCBI36
NG_013061.1:g.22380_22383delinsGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+55_750+58delinsGTTA MANE Select	ENSP00000363614.3:n.750+55_750+58delinsGTTA
ENST00000235958.4:c.320+55_320+58delinsGTTA
ENST00000374487.6:c.*791+55_*791+58delinsGTTA	ENSP00000363611.2:n.*791+55_*791+58delinsGTTA
ENST00000374490.7:c.750+55_750+58delinsGTTA	ENSP00000363614.3:n.750+55_750+58delinsGTTA
ENST00000436439.6:c.537+55_537+58delinsGTTA	ENSP00000389281.2:n.537+55_537+58delinsGTTA
ENST00000496907.1:n.385+55_385+58delinsGTTA
ENST00000509389.5:n.441+55_441+58delinsGTTA
NM_000191.2:c.750+55_750+58delinsGTTA	NP_000182.2:n.750+55_750+58delinsGTTA
NM_001166059.1:c.537+55_537+58delinsGTTA	NP_001159531.1:n.537+55_537+58delinsGTTA
NM_000191.3:c.750+55_750+58delinsGTTA MANE Select	NP_000182.2:n.750+55_750+58delinsGTTA
NM_001166059.2:c.537+55_537+58delinsGTTA	NP_001159531.1:n.537+55_537+58delinsGTTA