Canonical Allele Identifier: CA2638276006

Gene: C1QL1 NMT1

Linked Data

• gnomAD v4: 17-44960514-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44960519del , CM000679.2:g.44960519del	GRCh38
NC_000017.10:g.43037887del , CM000679.1:g.43037887del	GRCh37
NC_000017.9:g.40393413del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253407.4:c.598-148del (C1QL1) MANE Select	ENSP00000253407.2:n.598-148del
ENST00000678938.1:c.-110+2457del (NMT1)	ENSP00000503621.1:n.-110+2457del
ENST00000253407.3:c.598-148del (C1QL1)	ENSP00000253407.2:n.598-148del
NM_006688.4:c.598-148del (C1QL1)	NP_006679.1:n.598-148del
NM_006688.5:c.598-148del (C1QL1) MANE Select	NP_006679.1:n.598-148del