Canonical Allele Identifier: CA2601816932
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

gnomAD v3: 2-88859630-C-CTT
gnomAD v4: 2-88859630-C-CTT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859630_88859631insTT , CM000664.2:g.88859630_88859631insTT GRCh38
NC_000002.11:g.89159142_89159143insTT , CM000664.1:g.89159142_89159143insTT GRCh37
NC_000002.10:g.88940257_88940258insTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1948_389-1947insAA (IGKV1-12) ENSP00000480537.2:n.389-1948_389-1947insAA
ENST00000430694.5:c.37+1255_37+1256insAA (IGKC) ENSP00000481923.2:n.37+1255_37+1256insAA
ENST00000610638.3:c.397+1894_397+1895insAA (IGKC) ENSP00000484499.3:n.397+1894_397+1895insAA
ENST00000634828.1:c.382+1894_382+1895insAA (IGKV1-8) ENSP00000489500.1:n.382+1894_382+1895insAA
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