Canonical Allele Identifier: CA2638275962

Gene: C1QL1 NMT1

Linked Data

• gnomAD v4: 17-44960500-GCTCCCCCTCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44960502_44960513del , CM000679.2:g.44960502_44960513del	GRCh38
NC_000017.10:g.43037870_43037881del , CM000679.1:g.43037870_43037881del	GRCh37
NC_000017.9:g.40393396_40393407del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253407.4:c.598-145_598-134del (C1QL1) MANE Select	ENSP00000253407.2:n.598-145_598-134del
ENST00000678938.1:c.-110+2440_-110+2451del (NMT1)	ENSP00000503621.1:n.-110+2440_-110+2451del
ENST00000253407.3:c.598-145_598-134del (C1QL1)	ENSP00000253407.2:n.598-145_598-134del
NM_006688.4:c.598-145_598-134del (C1QL1)	NP_006679.1:n.598-145_598-134del
NM_006688.5:c.598-145_598-134del (C1QL1) MANE Select	NP_006679.1:n.598-145_598-134del