Canonical Allele Identifier: CA2644080508

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23817437-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817437_23817438insG , CM000663.2:g.23817437_23817438insG	GRCh38
NC_000001.10:g.24143927_24143928insG , CM000663.1:g.24143927_24143928insG	GRCh37
NC_000001.9:g.24016514_24016515insG	NCBI36
NG_013061.1:g.13022_13023insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.252+38_252+39insC MANE Select	ENSP00000363614.3:n.252+38_252+39insC
ENST00000235958.4:c.131+3072_131+3073insC
ENST00000374487.6:c.*293+38_*293+39insC	ENSP00000363611.2:n.*293+38_*293+39insC
ENST00000374490.7:c.252+38_252+39insC	ENSP00000363614.3:n.252+38_252+39insC
ENST00000436439.6:c.252+38_252+39insC	ENSP00000389281.2:n.252+38_252+39insC
ENST00000498698.1:n.58+38_58+39insC
ENST00000509389.5:n.264+38_264+39insC
ENST00000513148.1:n.253+38_253+39insC
NM_000191.2:c.252+38_252+39insC	NP_000182.2:n.252+38_252+39insC
NM_001166059.1:c.252+38_252+39insC	NP_001159531.1:n.252+38_252+39insC
NM_000191.3:c.252+38_252+39insC MANE Select	NP_000182.2:n.252+38_252+39insC
NM_001166059.2:c.252+38_252+39insC	NP_001159531.1:n.252+38_252+39insC