Canonical Allele Identifier: CA2601816997
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

gnomAD v3: 2-88859702-GGCCACCAAAGCCACTCAATCGAGAAAGACC-G
gnomAD v4: 2-88859702-GGCCACCAAAGCCACTCAATCGAGAAAGACC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859705_88859734del , CM000664.2:g.88859705_88859734del GRCh38
NC_000002.11:g.89159217_89159246del , CM000664.1:g.89159217_89159246del GRCh37
NC_000002.10:g.88940332_88940361del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-2049_389-2020del (IGKV1-12) ENSP00000480537.2:n.389-2049_389-2020del
ENST00000430694.5:c.37+1154_37+1183del (IGKC) ENSP00000481923.2:n.37+1154_37+1183del
ENST00000610638.3:c.397+1793_397+1822del (IGKC) ENSP00000484499.3:n.397+1793_397+1822del
ENST00000634828.1:c.382+1793_382+1822del (IGKV1-8) ENSP00000489500.1:n.382+1793_382+1822del
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