Canonical Allele Identifier: CA999575075

Gene: HMGCL

Linked Data

• gnomAD v3: 1-23808231-T-TTCCTGCATGACAGCAGAC
• gnomAD v4: 1-23808231-T-TTCCTGCATGACAGCAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808231_23808232insTCCTGCATGACAGCAGAC , CM000663.2:g.23808231_23808232insTCCTGCATGACAGCAGAC	GRCh38
NC_000001.10:g.24134721_24134722insTCCTGCATGACAGCAGAC , CM000663.1:g.24134721_24134722insTCCTGCATGACAGCAGAC	GRCh37
NC_000001.9:g.24007308_24007309insTCCTGCATGACAGCAGAC	NCBI36
NG_013061.1:g.22228_22229insGTCTGCTGTCATGCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.653_654insGTCTGCTGTCATGCAGGA MANE Select	ENSP00000363614.3:p.Leu218_Ser219insSerAlaValMetGlnGlu
ENST00000235958.4:c.223_224insGTCTGCTGTCATGCAGGA
ENST00000374487.6:c.*694_*695insGTCTGCTGTCATGCAGGA	ENSP00000363611.2:n.*694_*695insGTCTGCTGTCATGCAGGA
ENST00000374490.7:c.653_654insGTCTGCTGTCATGCAGGA	ENSP00000363614.3:p.Leu218_Ser219insSerAlaValMetGlnGlu
ENST00000436439.6:c.440_441insGTCTGCTGTCATGCAGGA	ENSP00000389281.2:p.Leu147_Ser148insSerAlaValMetGlnGlu
ENST00000496907.1:n.288_289insGTCTGCTGTCATGCAGGA
ENST00000509389.5:n.361-17_361-16insGTCTGCTGTCATGCAGGA
NM_000191.2:c.653_654insGTCTGCTGTCATGCAGGA	NP_000182.2:p.Leu218_Ser219insSerAlaValMetGlnGlu
NM_001166059.1:c.440_441insGTCTGCTGTCATGCAGGA	NP_001159531.1:p.Leu147_Ser148insSerAlaValMetGlnGlu
NM_000191.3:c.653_654insGTCTGCTGTCATGCAGGA MANE Select	NP_000182.2:p.Leu218_Ser219insSerAlaValMetGlnGlu
NM_001166059.2:c.440_441insGTCTGCTGTCATGCAGGA	NP_001159531.1:p.Leu147_Ser148insSerAlaValMetGlnGlu