Canonical Allele Identifier: CA2601815948
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs2104287151
gnomAD v3: 2-88859828-AAAATATTTCCTATTTTTTTCACAGACC-A
gnomAD v4: 2-88859828-AAAATATTTCCTATTTTTTTCACAGACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859829_88859855del , CM000664.2:g.88859829_88859855del GRCh38
NC_000002.11:g.89159341_89159367del , CM000664.1:g.89159341_89159367del GRCh37
NC_000002.10:g.88940456_88940482del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.388+2031_388+2057del (IGKV1-12) ENSP00000480537.2:n.388+2031_388+2057del
ENST00000430694.5:c.37+1031_37+1057del (IGKC) ENSP00000481923.2:n.37+1031_37+1057del
ENST00000610638.3:c.397+1670_397+1696del (IGKC) ENSP00000484499.3:n.397+1670_397+1696del
ENST00000634828.1:c.382+1670_382+1696del (IGKV1-8) ENSP00000489500.1:n.382+1670_382+1696del
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