Canonical Allele Identifier: CA697440176

Gene: KL

Linked Data

• dbSNP Id: rs1478197150
• gnomAD v3: 13-33036380-CCACACACATG-C
• gnomAD v4: 13-33036380-CCACACACATG-C
• MyVariant Identifiers: chr13:g.33610518_33610527del (hg19) ; chr13:g.33036381_33036390del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33036389_33036398del , CM000675.2:g.33036389_33036398del	GRCh38
NC_000013.10:g.33610526_33610535del , CM000675.1:g.33610526_33610535del	GRCh37
NC_000013.9:g.32508526_32508535del	NCBI36
NG_011485.1:g.24956_24965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.820-17378_820-17369del MANE Select	ENSP00000369442.3:n.820-17378_820-17369del
ENST00000380099.3:c.820-17378_820-17369del	ENSP00000369442.3:n.820-17378_820-17369del
ENST00000487852.1:n.828-17378_828-17369del
NM_004795.3:c.820-17378_820-17369del	NP_004786.2:n.820-17378_820-17369del
XM_006719895.1:c.-102-17378_-102-17369del	XP_006719958.1:n.-102-17378_-102-17369del
XM_006719895.2:c.-102-17378_-102-17369del	XP_006719958.1:n.-102-17378_-102-17369del
NM_004795.4:c.820-17378_820-17369del MANE Select	NP_004786.2:n.820-17378_820-17369del