Canonical Allele Identifier: CA2622629996
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055423-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055423C>G , CM000675.2:g.33055423C>G GRCh38
NC_000013.10:g.33629560C>G , CM000675.1:g.33629560C>G GRCh37
NC_000013.9:g.32527560C>G NCBI36
NG_011485.1:g.43990C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+108C>G MANE Select ENSP00000369442.3:n.1599+108C>G
ENST00000380099.3:c.1599+108C>G ENSP00000369442.3:n.1599+108C>G
ENST00000487852.1:n.1657+58C>G
NM_004795.3:c.1599+108C>G NP_004786.2:n.1599+108C>G
XM_006719895.1:c.678+108C>G XP_006719958.1:n.678+108C>G
XM_006719895.2:c.678+108C>G XP_006719958.1:n.678+108C>G
NM_004795.4:c.1599+108C>G MANE Select NP_004786.2:n.1599+108C>G
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