Canonical Allele Identifier: CA2644083756

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23802435-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23802439del , CM000663.2:g.23802439del	GRCh38
NC_000001.10:g.24128929del , CM000663.1:g.24128929del	GRCh37
NC_000001.9:g.24001516del	NCBI36
NG_007068.1:g.3369del
NG_013061.1:g.28024del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.*27del MANE Select	ENSP00000363614.3:n.*27del
ENST00000235958.4:c.575del
ENST00000374487.6:c.*1046del	ENSP00000363611.2:n.*1046del
ENST00000374490.7:c.*27del	ENSP00000363614.3:n.*27del
ENST00000436439.6:c.*27del	ENSP00000389281.2:n.*27del
NM_000191.2:c.*27del	NP_000182.2:n.*27del
NM_001166059.1:c.*27del	NP_001159531.1:n.*27del
NM_000191.3:c.*27del MANE Select	NP_000182.2:n.*27del
NM_001166059.2:c.*27del	NP_001159531.1:n.*27del