Canonical Allele Identifier: CA919243686
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs71196504
gnomAD v3: 13-33036415-C-CCA
gnomAD v4: 13-33036415-C-CCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33036424_33036425dup , CM000675.2:g.33036424_33036425dup GRCh38
NC_000013.10:g.33610561_33610562dup , CM000675.1:g.33610561_33610562dup GRCh37
NC_000013.9:g.32508561_32508562dup NCBI36
NG_011485.1:g.24991_24992dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.820-17343_820-17342dup MANE Select ENSP00000369442.3:n.820-17343_820-17342dup
ENST00000380099.3:c.820-17343_820-17342dup ENSP00000369442.3:n.820-17343_820-17342dup
ENST00000487852.1:n.828-17343_828-17342dup
NM_004795.3:c.820-17343_820-17342dup NP_004786.2:n.820-17343_820-17342dup
XM_006719895.1:c.-102-17343_-102-17342dup XP_006719958.1:n.-102-17343_-102-17342dup
XM_006719895.2:c.-102-17343_-102-17342dup XP_006719958.1:n.-102-17343_-102-17342dup
NM_004795.4:c.820-17343_820-17342dup MANE Select NP_004786.2:n.820-17343_820-17342dup
Search 100 bp 5'
Search 100 bp 3'