Canonical Allele Identifier: CA247515628

Gene: KL

Linked Data

• dbSNP Id: rs999236212
• gnomAD v2: 13-33610611-GC-G
• gnomAD v3: 13-33036474-GC-G
• gnomAD v4: 13-33036474-GC-G
• MyVariant Identifiers: chr13:g.33610612del (hg19) ; chr13:g.33036475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33036475del , CM000675.2:g.33036475del	GRCh38
NC_000013.10:g.33610612del , CM000675.1:g.33610612del	GRCh37
NC_000013.9:g.32508612del	NCBI36
NG_011485.1:g.25042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.820-17292del MANE Select	ENSP00000369442.3:n.820-17292del
ENST00000380099.3:c.820-17292del	ENSP00000369442.3:n.820-17292del
ENST00000487852.1:n.828-17292del
NM_004795.3:c.820-17292del	NP_004786.2:n.820-17292del
XM_006719895.1:c.-102-17292del	XP_006719958.1:n.-102-17292del
XM_006719895.2:c.-102-17292del	XP_006719958.1:n.-102-17292del
NM_004795.4:c.820-17292del MANE Select	NP_004786.2:n.820-17292del