Canonical Allele Identifier: CA2622629967
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055136-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055137del , CM000675.2:g.33055137del GRCh38
NC_000013.10:g.33629274del , CM000675.1:g.33629274del GRCh37
NC_000013.9:g.32527274del NCBI36
NG_011485.1:g.43704del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1421del MANE Select ENSP00000369442.3:p.Arg474LeufsTer9
ENST00000380099.3:c.1421del ENSP00000369442.3:p.Arg474LeufsTer9
ENST00000487852.1:n.1429del
NM_004795.3:c.1421del NP_004786.2:p.Arg474LeufsTer9
XM_006719895.1:c.500del XP_006719958.1:p.Arg167LeufsTer9
XM_006719895.2:c.500del XP_006719958.1:p.Arg167LeufsTer9
NM_004795.4:c.1421del MANE Select NP_004786.2:p.Arg474LeufsTer9
Search 100 bp 5'
Search 100 bp 3'