Canonical Allele Identifier: CA697430742
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1189579217
gnomAD v4: 13-33055448-TA-T
MyVariant Identifiers: chr13:g.33629586del (hg19) chr13:g.33055449del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055450del , CM000675.2:g.33055450del GRCh38
NC_000013.10:g.33629587del , CM000675.1:g.33629587del GRCh37
NC_000013.9:g.32527587del NCBI36
NG_011485.1:g.44017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+135del MANE Select ENSP00000369442.3:n.1599+135del
ENST00000380099.3:c.1599+135del ENSP00000369442.3:n.1599+135del
ENST00000487852.1:n.1657+85del
NM_004795.3:c.1599+135del NP_004786.2:n.1599+135del
XM_006719895.1:c.678+135del XP_006719958.1:n.678+135del
XM_006719895.2:c.678+135del XP_006719958.1:n.678+135del
NM_004795.4:c.1599+135del MANE Select NP_004786.2:n.1599+135del
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