Canonical Allele Identifier: CA626225713
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1235997169
gnomAD v2: 17-43037932-CCCT-C
gnomAD v3: 17-44960564-CCCT-C
gnomAD v4: 17-44960564-CCCT-C
MyVariant Identifiers: chr17:g.43037933_43037935del (hg19) chr17:g.44960565_44960567del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960565_44960567del , CM000679.2:g.44960565_44960567del GRCh38
NC_000017.10:g.43037933_43037935del , CM000679.1:g.43037933_43037935del GRCh37
NC_000017.9:g.40393459_40393461del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-200_598-198del (C1QL1) MANE Select ENSP00000253407.2:n.598-200_598-198del
ENST00000678938.1:c.-110+2503_-110+2505del (NMT1) ENSP00000503621.1:n.-110+2503_-110+2505del
ENST00000253407.3:c.598-200_598-198del (C1QL1) ENSP00000253407.2:n.598-200_598-198del
NM_006688.4:c.598-200_598-198del (C1QL1) NP_006679.1:n.598-200_598-198del
NM_006688.5:c.598-200_598-198del (C1QL1) MANE Select NP_006679.1:n.598-200_598-198del
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