Canonical Allele Identifier: CA609108944
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1375423767
gnomAD v2: 13-33629668-TA-T
gnomAD v3: 13-33055531-TA-T
gnomAD v4: 13-33055531-TA-T
MyVariant Identifiers: chr13:g.33629669del (hg19) chr13:g.33055532del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055534del , CM000675.2:g.33055534del GRCh38
NC_000013.10:g.33629671del , CM000675.1:g.33629671del GRCh37
NC_000013.9:g.32527671del NCBI36
NG_011485.1:g.44101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+219del MANE Select ENSP00000369442.3:n.1599+219del
ENST00000380099.3:c.1599+219del ENSP00000369442.3:n.1599+219del
ENST00000487852.1:n.1657+169del
NM_004795.3:c.1599+219del NP_004786.2:n.1599+219del
XM_006719895.1:c.678+219del XP_006719958.1:n.678+219del
XM_006719895.2:c.678+219del XP_006719958.1:n.678+219del
NM_004795.4:c.1599+219del MANE Select NP_004786.2:n.1599+219del
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