Canonical Allele Identifier: CA2507449876
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960486_44960501del , CM000679.2:g.44960486_44960501del GRCh38
NC_000017.10:g.43037854_43037869del , CM000679.1:g.43037854_43037869del GRCh37
NC_000017.9:g.40393380_40393395del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-131_598-116del (C1QL1) MANE Select ENSP00000253407.2:n.598-131_598-116del
ENST00000678938.1:c.-110+2424_-110+2439del (NMT1) ENSP00000503621.1:n.-110+2424_-110+2439del
ENST00000253407.3:c.598-131_598-116del (C1QL1) ENSP00000253407.2:n.598-131_598-116del
NM_006688.4:c.598-131_598-116del (C1QL1) NP_006679.1:n.598-131_598-116del
NM_006688.5:c.598-131_598-116del (C1QL1) MANE Select NP_006679.1:n.598-131_598-116del
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