Canonical Allele Identifier: CA2685364711

Gene: KEL

Linked Data

• gnomAD v4: 7-142958023-C-CAGACAATGGGGGATGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958023_142958024insAGACAATGGGGGATGGG , CM000669.2:g.142958023_142958024insAGACAATGGGGGATGGG	GRCh38
NC_000007.13:g.142655110_142655111insAGACAATGGGGGATGGG , CM000669.1:g.142655110_142655111insAGACAATGGGGGATGGG	GRCh37
NC_000007.12:g.142365232_142365233insAGACAATGGGGGATGGG	NCBI36
NG_007492.1:g.9393_9394insCCCATCCCCCATTGTCT
NG_007492.2:g.9393_9394insCCCATCCCCCATTGTCT
NG_007492.3:g.9393_9394insCCCATCCCCCATTGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-51_526-50insCCCATCCCCCATTGTCT MANE Select	ENSP00000347409.2:n.526-51_526-50insCCCATCCCCCATTGTCT
ENST00000467543.6:c.*378-51_*378-50insCCCATCCCCCATTGTCT	ENSP00000420011.2:n.*378-51_*378-50insCCCATCCCCCATTGTCT
ENST00000355265.6:c.526-51_526-50insCCCATCCCCCATTGTCT	ENSP00000347409.2:n.526-51_526-50insCCCATCCCCCATTGTCT
ENST00000467543.5:c.469-51_469-50insCCCATCCCCCATTGTCT	ENSP00000420011.1:n.469-51_469-50insCCCATCCCCCATTGTCT
ENST00000476829.5:c.525+280_525+281insCCCATCCCCCATTGTCT	ENSP00000419889.1:n.525+280_525+281insCCCATCCCCCATTGTCT
ENST00000479768.6:n.644-51_644-50insCCCATCCCCCATTGTCT
ENST00000494148.1:n.125-51_125-50insCCCATCCCCCATTGTCT
NM_000420.2:c.526-51_526-50insCCCATCCCCCATTGTCT	NP_000411.1:n.526-51_526-50insCCCATCCCCCATTGTCT
XM_005249993.2:c.562-51_562-50insCCCATCCCCCATTGTCT	XP_005250050.1:n.562-51_562-50insCCCATCCCCCATTGTCT
NM_000420.3:c.526-51_526-50insCCCATCCCCCATTGTCT MANE Select	NP_000411.1:n.526-51_526-50insCCCATCCCCCATTGTCT