Canonical Allele Identifier: CA2261633958
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

dbSNP Id: rs2052623614
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960754_44960755del , CM000679.2:g.44960754_44960755del GRCh38
NC_000017.10:g.43038122_43038123del , CM000679.1:g.43038122_43038123del GRCh37
NC_000017.9:g.40393648_40393649del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-388_598-387del (C1QL1) MANE Select ENSP00000253407.2:n.598-388_598-387del
ENST00000678938.1:c.-110+2692_-110+2693del (NMT1) ENSP00000503621.1:n.-110+2692_-110+2693del
ENST00000253407.3:c.598-388_598-387del (C1QL1) ENSP00000253407.2:n.598-388_598-387del
NM_006688.4:c.598-388_598-387del (C1QL1) NP_006679.1:n.598-388_598-387del
NM_006688.5:c.598-388_598-387del (C1QL1) MANE Select NP_006679.1:n.598-388_598-387del
Search 100 bp 5'
Search 100 bp 3'