Canonical Allele Identifier: CA2601815890
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

gnomAD v3: 2-88859784-TGTAGACAAGTAATAACAGAGGATAATGAAA-T
gnomAD v4: 2-88859784-TGTAGACAAGTAATAACAGAGGATAATGAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859786_88859815del , CM000664.2:g.88859786_88859815del GRCh38
NC_000002.11:g.89159298_89159327del , CM000664.1:g.89159298_89159327del GRCh37
NC_000002.10:g.88940413_88940442del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.388+2072_389-2102del (IGKV1-12) ENSP00000480537.2:n.388+2072_389-2102del
ENST00000430694.5:c.37+1072_37+1101del (IGKC) ENSP00000481923.2:n.37+1072_37+1101del
ENST00000610638.3:c.397+1711_397+1740del (IGKC) ENSP00000484499.3:n.397+1711_397+1740del
ENST00000634828.1:c.382+1711_382+1740del (IGKV1-8) ENSP00000489500.1:n.382+1711_382+1740del
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