Canonical Allele Identifier: CA697440241
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1236266631
gnomAD v3: 13-33036556-TC-T
gnomAD v4: 13-33036556-TC-T
MyVariant Identifiers: chr13:g.33610694del (hg19) chr13:g.33036557del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33036557del , CM000675.2:g.33036557del GRCh38
NC_000013.10:g.33610694del , CM000675.1:g.33610694del GRCh37
NC_000013.9:g.32508694del NCBI36
NG_011485.1:g.25124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.820-17210del MANE Select ENSP00000369442.3:n.820-17210del
ENST00000380099.3:c.820-17210del ENSP00000369442.3:n.820-17210del
ENST00000487852.1:n.828-17210del
NM_004795.3:c.820-17210del NP_004786.2:n.820-17210del
XM_006719895.1:c.-102-17210del XP_006719958.1:n.-102-17210del
XM_006719895.2:c.-102-17210del XP_006719958.1:n.-102-17210del
NM_004795.4:c.820-17210del MANE Select NP_004786.2:n.820-17210del
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