Canonical Allele Identifier: CA1158967992

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817430_23817432delinsCTT , CM000663.2:g.23817430_23817432delinsCTT	GRCh38
NC_000001.10:g.24143920_24143922delinsCTT , CM000663.1:g.24143920_24143922delinsCTT	GRCh37
NC_000001.9:g.24016507_24016509delinsCTT	NCBI36
NG_013061.1:g.13028_13030delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.252+44_252+46delinsAAG MANE Select	ENSP00000363614.3:n.252+44_252+46delinsAA...
ENST00000235958.4:c.131+3078_131+3080delinsAAG
ENST00000374487.6:c.*293+44_*293+46delinsAAG	ENSP00000363611.2:n.*293+44_*293+46delins...
ENST00000374490.7:c.252+44_252+46delinsAAG	ENSP00000363614.3:n.252+44_252+46delinsAA...
ENST00000436439.6:c.252+44_252+46delinsAAG	ENSP00000389281.2:n.252+44_252+46delinsAA...
ENST00000498698.1:n.58+44_58+46delinsAAG
ENST00000509389.5:n.264+44_264+46delinsAAG
ENST00000513148.1:n.253+44_253+46delinsAAG
NM_000191.2:c.252+44_252+46delinsAAG	NP_000182.2:n.252+44_252+46delinsAAG
NM_001166059.1:c.252+44_252+46delinsAAG	NP_001159531.1:n.252+44_252+46delinsAAG
NM_000191.3:c.252+44_252+46delinsAAG MANE Select	NP_000182.2:n.252+44_252+46delinsAAG
NM_001166059.2:c.252+44_252+46delinsAAG	NP_001159531.1:n.252+44_252+46delinsAAG