Canonical Allele Identifier: CA2778220891
Gene: KEL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958190T>G , CM000669.2:g.142958190T>G GRCh38
NC_000007.13:g.142655277T>G , CM000669.1:g.142655277T>G GRCh37
NC_000007.12:g.142365399T>G NCBI36
NG_007492.1:g.9227A>C
NG_007492.2:g.9227A>C
NG_007492.3:g.9227A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+114A>C MANE Select ENSP00000347409.2:n.525+114A>C
ENST00000467543.6:c.*377+114A>C ENSP00000420011.2:n.*377+114A>C
ENST00000355265.6:c.525+114A>C ENSP00000347409.2:n.525+114A>C
ENST00000467543.5:c.468+114A>C ENSP00000420011.1:n.468+114A>C
ENST00000476829.5:c.525+114A>C ENSP00000419889.1:n.525+114A>C
ENST00000479768.6:n.643+114A>C
ENST00000494148.1:n.124+114A>C
NM_000420.2:c.525+114A>C NP_000411.1:n.525+114A>C
XM_005249993.2:c.561+114A>C XP_005250050.1:n.561+114A>C
NM_000420.3:c.525+114A>C MANE Select NP_000411.1:n.525+114A>C
Search 100 bp 5'
Search 100 bp 3'