Canonical Allele Identifier: CA2644076003

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23808040-ACTGGCATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808041_23808048del , CM000663.2:g.23808041_23808048del	GRCh38
NC_000001.10:g.24134531_24134538del , CM000663.1:g.24134531_24134538del	GRCh37
NC_000001.9:g.24007118_24007125del	NCBI36
NG_013061.1:g.22412_22419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+87_750+94del MANE Select	ENSP00000363614.3:n.750+87_750+94del
ENST00000235958.4:c.320+87_320+94del
ENST00000374487.6:c.*791+87_*791+94del	ENSP00000363611.2:n.*791+87_*791+94del
ENST00000374490.7:c.750+87_750+94del	ENSP00000363614.3:n.750+87_750+94del
ENST00000436439.6:c.537+87_537+94del	ENSP00000389281.2:n.537+87_537+94del
ENST00000496907.1:n.385+87_385+94del
ENST00000509389.5:n.441+87_441+94del
NM_000191.2:c.750+87_750+94del	NP_000182.2:n.750+87_750+94del
NM_001166059.1:c.537+87_537+94del	NP_001159531.1:n.537+87_537+94del
NM_000191.3:c.750+87_750+94del MANE Select	NP_000182.2:n.750+87_750+94del
NM_001166059.2:c.537+87_537+94del	NP_001159531.1:n.537+87_537+94del