Canonical Allele Identifier: CA2601815946
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

gnomAD v3: 2-88859827-TAAAATATTTCCTATTTTTTTCACAGACCCACGGTCATTAAAAAATGCAATTATTTACTTTTTTTCATTTAAACACATTTC-T
gnomAD v4: 2-88859827-TAAAATATTTCCTATTTTTTTCACAGACCCACGGTCATTAAAAAATGCAATTATTTACTTTTTTTCATTTAAACACATTTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859828_88859907del , CM000664.2:g.88859828_88859907del GRCh38
NC_000002.11:g.89159340_89159419del , CM000664.1:g.89159340_89159419del GRCh37
NC_000002.10:g.88940455_88940534del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.388+1979_388+2058del (IGKV1-12) ENSP00000480537.2:n.388+1979_388+2058del
ENST00000430694.5:c.37+979_37+1058del (IGKC) ENSP00000481923.2:n.37+979_37+1058del
ENST00000610638.3:c.397+1618_397+1697del (IGKC) ENSP00000484499.3:n.397+1618_397+1697del
ENST00000634828.1:c.382+1618_382+1697del (IGKV1-8) ENSP00000489500.1:n.382+1618_382+1697del
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