Canonical Allele Identifier: CA954749528

Gene: KL

Linked Data

• gnomAD v3: 13-33036341-GCACACACACCACACACACATACACATACCACATACATACCACACACATGCACACACACCA-G
• gnomAD v4: 13-33036341-GCACACACACCACACACACATACACATACCACATACATACCACACACATGCACACACACCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33036356_33036415del , CM000675.2:g.33036356_33036415del	GRCh38
NC_000013.10:g.33610493_33610552del , CM000675.1:g.33610493_33610552del	GRCh37
NC_000013.9:g.32508493_32508552del	NCBI36
NG_011485.1:g.24923_24982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.820-17411_820-17352del MANE Select	ENSP00000369442.3:n.820-17411_820-17352del
ENST00000380099.3:c.820-17411_820-17352del	ENSP00000369442.3:n.820-17411_820-17352del
ENST00000487852.1:n.828-17411_828-17352del
NM_004795.3:c.820-17411_820-17352del	NP_004786.2:n.820-17411_820-17352del
XM_006719895.1:c.-102-17411_-102-17352del	XP_006719958.1:n.-102-17411_-102-17352del
XM_006719895.2:c.-102-17411_-102-17352del	XP_006719958.1:n.-102-17411_-102-17352del
NM_004795.4:c.820-17411_820-17352del MANE Select	NP_004786.2:n.820-17411_820-17352del