Canonical Allele Identifier: CA686150

Gene: HMGCL

Linked Data

• dbSNP Id: rs780681704
• ExAC: 1:24143933 GAGAAA / G
• gnomAD v2: 1-24143933-GAGAAA-G
• gnomAD v4: 1-23817443-GAGAAA-G
• MyVariant Identifiers: chr1:g.24143934_24143938del (hg19) ; chr1:g.23817444_23817448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817444_23817448del , CM000663.2:g.23817444_23817448del	GRCh38
NC_000001.10:g.24143934_24143938del , CM000663.1:g.24143934_24143938del	GRCh37
NC_000001.9:g.24016521_24016525del	NCBI36
NG_013061.1:g.13012_13016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.252+28_252+32del MANE Select	ENSP00000363614.3:n.252+28_252+32del
ENST00000235958.4:c.131+3062_131+3066del
ENST00000374487.6:c.*293+28_*293+32del	ENSP00000363611.2:n.*293+28_*293+32del
ENST00000374490.7:c.252+28_252+32del	ENSP00000363614.3:n.252+28_252+32del
ENST00000436439.6:c.252+28_252+32del	ENSP00000389281.2:n.252+28_252+32del
ENST00000498698.1:n.58+28_58+32del
ENST00000509389.5:n.264+28_264+32del
ENST00000513148.1:n.253+28_253+32del
NM_000191.2:c.252+28_252+32del	NP_000182.2:n.252+28_252+32del
NM_001166059.1:c.252+28_252+32del	NP_001159531.1:n.252+28_252+32del
NM_000191.3:c.252+28_252+32del MANE Select	NP_000182.2:n.252+28_252+32del
NM_001166059.2:c.252+28_252+32del	NP_001159531.1:n.252+28_252+32del