Canonical Allele Identifier: CA1748724442
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957781G= , CM000669.2:g.142957781G= GRCh38
NC_000007.13:g.142654868G= , CM000669.1:g.142654868G= GRCh37
NC_000007.12:g.142364990G= NCBI36
NG_007492.1:g.9636C=
NG_007492.2:g.9636C=
NG_007492.3:g.9636C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+46C= MANE Select ENSP00000347409.2:n.672+46C=
ENST00000355265.6:c.672+46C= ENSP00000347409.2:n.672+46C=
ENST00000476829.5:c.525+523C= ENSP00000419889.1:n.525+523C=
ENST00000479768.6:n.790+46C=
ENST00000494148.1:n.271+46C=
NM_000420.2:c.672+46C= NP_000411.1:n.672+46C=
XM_005249993.2:c.708+46C= XP_005250050.1:n.708+46C=
NM_000420.3:c.672+46C= MANE Select NP_000411.1:n.672+46C=