Canonical Allele Identifier: CA2644080459

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23817364-TCTCAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817366_23817372del , CM000663.2:g.23817366_23817372del	GRCh38
NC_000001.10:g.24143856_24143862del , CM000663.1:g.24143856_24143862del	GRCh37
NC_000001.9:g.24016443_24016449del	NCBI36
NG_013061.1:g.13089_13095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.252+105_252+111del MANE Select	ENSP00000363614.3:n.252+105_252+111del
ENST00000235958.4:c.131+3139_131+3145del
ENST00000374487.6:c.*293+105_*293+111del	ENSP00000363611.2:n.*293+105_*293+111del
ENST00000374490.7:c.252+105_252+111del	ENSP00000363614.3:n.252+105_252+111del
ENST00000436439.6:c.252+105_252+111del	ENSP00000389281.2:n.252+105_252+111del
ENST00000498698.1:n.58+105_58+111del
ENST00000509389.5:n.264+105_264+111del
ENST00000513148.1:n.253+105_253+111del
NM_000191.2:c.252+105_252+111del	NP_000182.2:n.252+105_252+111del
NM_001166059.1:c.252+105_252+111del	NP_001159531.1:n.252+105_252+111del
NM_000191.3:c.252+105_252+111del MANE Select	NP_000182.2:n.252+105_252+111del
NM_001166059.2:c.252+105_252+111del	NP_001159531.1:n.252+105_252+111del