Canonical Allele Identifier: CA6944010
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs758746079
ExAC: 13:33628062 GT / G
gnomAD v4: 13-33053925-GT-G
MyVariant Identifiers: chr13:g.33628063del (hg19) chr13:g.33053926del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053928del , CM000675.2:g.33053928del GRCh38
NC_000013.10:g.33628065del , CM000675.1:g.33628065del GRCh37
NC_000013.9:g.32526065del NCBI36
NG_011485.1:g.42495del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.981del MANE Select ENSP00000369442.3:p.Phe327LeufsTer15
ENST00000380099.3:c.981del ENSP00000369442.3:p.Phe327LeufsTer15
ENST00000487852.1:n.989del
NM_004795.3:c.981del NP_004786.2:p.Phe327LeufsTer15
XM_006719895.1:c.60del XP_006719958.1:p.Phe20LeufsTer15
XM_006719895.2:c.60del XP_006719958.1:p.Phe20LeufsTer15
NM_004795.4:c.981del MANE Select NP_004786.2:p.Phe327LeufsTer15
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