Canonical Allele Identifier: CA1748724593
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958148C= , CM000669.2:g.142958148C= GRCh38
NC_000007.13:g.142655235C= , CM000669.1:g.142655235C= GRCh37
NC_000007.12:g.142365357C= NCBI36
NG_007492.1:g.9269G=
NG_007492.2:g.9269G=
NG_007492.3:g.9269G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.525+156G= MANE Select ENSP00000347409.2:n.525+156G=
ENST00000467543.6:c.*377+156G= ENSP00000420011.2:n.*377+156G=
ENST00000355265.6:c.525+156G= ENSP00000347409.2:n.525+156G=
ENST00000467543.5:c.468+156G= ENSP00000420011.1:n.468+156G=
ENST00000476829.5:c.525+156G= ENSP00000419889.1:n.525+156G=
ENST00000479768.6:n.643+156G=
ENST00000494148.1:n.124+156G=
NM_000420.2:c.525+156G= NP_000411.1:n.525+156G=
XM_005249993.2:c.561+156G= XP_005250050.1:n.561+156G=
NM_000420.3:c.525+156G= MANE Select NP_000411.1:n.525+156G=