Canonical Allele Identifier: CA1748724599
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958166C= , CM000669.2:g.142958166C= GRCh38
NC_000007.13:g.142655253C= , CM000669.1:g.142655253C= GRCh37
NC_000007.12:g.142365375C= NCBI36
NG_007492.1:g.9251G=
NG_007492.2:g.9251G=
NG_007492.3:g.9251G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+138G= MANE Select ENSP00000347409.2:n.525+138G=
ENST00000467543.6:c.*377+138G= ENSP00000420011.2:n.*377+138G=
ENST00000355265.6:c.525+138G= ENSP00000347409.2:n.525+138G=
ENST00000467543.5:c.468+138G= ENSP00000420011.1:n.468+138G=
ENST00000476829.5:c.525+138G= ENSP00000419889.1:n.525+138G=
ENST00000479768.6:n.643+138G=
ENST00000494148.1:n.124+138G=
NM_000420.2:c.525+138G= NP_000411.1:n.525+138G=
XM_005249993.2:c.561+138G= XP_005250050.1:n.561+138G=
NM_000420.3:c.525+138G= MANE Select NP_000411.1:n.525+138G=