Canonical Allele Identifier: CA697430687
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1272244373
gnomAD v3: 13-33055378-TC-T
gnomAD v4: 13-33055378-TC-T
MyVariant Identifiers: chr13:g.33629516del (hg19) chr13:g.33055379del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055380del , CM000675.2:g.33055380del GRCh38
NC_000013.10:g.33629517del , CM000675.1:g.33629517del GRCh37
NC_000013.9:g.32527517del NCBI36
NG_011485.1:g.43947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+65del MANE Select ENSP00000369442.3:n.1599+65del
ENST00000380099.3:c.1599+65del ENSP00000369442.3:n.1599+65del
ENST00000487852.1:n.1657+15del
NM_004795.3:c.1599+65del NP_004786.2:n.1599+65del
XM_006719895.1:c.678+65del XP_006719958.1:n.678+65del
XM_006719895.2:c.678+65del XP_006719958.1:n.678+65del
NM_004795.4:c.1599+65del MANE Select NP_004786.2:n.1599+65del
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