Canonical Allele Identifier: CA1748724541

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958010_142958011delinsCG , CM000669.2:g.142958010_142958011delinsCG	GRCh38
NC_000007.13:g.142655097_142655098delinsCG , CM000669.1:g.142655097_142655098delinsCG	GRCh37
NC_000007.12:g.142365219_142365220delinsCG	NCBI36
NG_007492.1:g.9406_9407delinsCG
NG_007492.2:g.9406_9407delinsCG
NG_007492.3:g.9406_9407delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-38_526-37delinsCG MANE Select	ENSP00000347409.2:n.526-38_526-37delinsCG
ENST00000467543.6:c.*378-38_*378-37delinsCG	ENSP00000420011.2:n.*378-38_*378-37delinsCG
ENST00000355265.6:c.526-38_526-37delinsCG	ENSP00000347409.2:n.526-38_526-37delinsCG
ENST00000467543.5:c.469-38_469-37delinsCG	ENSP00000420011.1:n.469-38_469-37delinsCG
ENST00000476829.5:c.525+293_525+294delinsCG	ENSP00000419889.1:n.525+293_525+294delinsCG
ENST00000479768.6:n.644-38_644-37delinsCG
ENST00000494148.1:n.125-38_125-37delinsCG
NM_000420.2:c.526-38_526-37delinsCG	NP_000411.1:n.526-38_526-37delinsCG
XM_005249993.2:c.562-38_562-37delinsCG	XP_005250050.1:n.562-38_562-37delinsCG
NM_000420.3:c.526-38_526-37delinsCG MANE Select	NP_000411.1:n.526-38_526-37delinsCG