Canonical Allele Identifier: CA697430807

Gene: KL

Linked Data

• dbSNP Id: rs1254637636
• MyVariant Identifiers: chr13:g.33629730_33629731del (hg19) ; chr13:g.33055593_33055594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055595_33055596del , CM000675.2:g.33055595_33055596del	GRCh38
NC_000013.10:g.33629732_33629733del , CM000675.1:g.33629732_33629733del	GRCh37
NC_000013.9:g.32527732_32527733del	NCBI36
NG_011485.1:g.44162_44163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+280_1599+281del MANE Select	ENSP00000369442.3:n.1599+280_1599+281del
ENST00000380099.3:c.1599+280_1599+281del	ENSP00000369442.3:n.1599+280_1599+281del
ENST00000487852.1:n.1657+230_1657+231del
NM_004795.3:c.1599+280_1599+281del	NP_004786.2:n.1599+280_1599+281del
XM_006719895.1:c.678+280_678+281del	XP_006719958.1:n.678+280_678+281del
XM_006719895.2:c.678+280_678+281del	XP_006719958.1:n.678+280_678+281del
NM_004795.4:c.1599+280_1599+281del MANE Select	NP_004786.2:n.1599+280_1599+281del