Canonical Allele Identifier: CA2261633815

Gene: C1QL1 NMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44960564_44960567delinsCCCT , CM000679.2:g.44960564_44960567delinsCCCT	GRCh38
NC_000017.10:g.43037932_43037935delinsCCCT , CM000679.1:g.43037932_43037935delinsCCCT	GRCh37
NC_000017.9:g.40393458_40393461delinsCCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253407.4:c.598-200_598-197delinsAGGG (C1QL1) MANE Select	ENSP00000253407.2:n.598-200_598-197delinsAGGG
ENST00000678938.1:c.-110+2502_-110+2505delinsCCCT (NMT1)	ENSP00000503621.1:n.-110+2502_-110+2505delinsCCCT
ENST00000253407.3:c.598-200_598-197delinsAGGG (C1QL1)	ENSP00000253407.2:n.598-200_598-197delinsAGGG
NM_006688.4:c.598-200_598-197delinsAGGG (C1QL1)	NP_006679.1:n.598-200_598-197delinsAGGG
NM_006688.5:c.598-200_598-197delinsAGGG (C1QL1) MANE Select	NP_006679.1:n.598-200_598-197delinsAGGG