Canonical Allele Identifier: CA1748724560
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958045T= , CM000669.2:g.142958045T= GRCh38
NC_000007.13:g.142655132T= , CM000669.1:g.142655132T= GRCh37
NC_000007.12:g.142365254T= NCBI36
NG_007492.1:g.9372A=
NG_007492.2:g.9372A=
NG_007492.3:g.9372A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-72A= MANE Select ENSP00000347409.2:n.526-72A=
ENST00000467543.6:c.*378-72A= ENSP00000420011.2:n.*378-72A=
ENST00000355265.6:c.526-72A= ENSP00000347409.2:n.526-72A=
ENST00000467543.5:c.469-72A= ENSP00000420011.1:n.469-72A=
ENST00000476829.5:c.525+259A= ENSP00000419889.1:n.525+259A=
ENST00000479768.6:n.644-72A=
ENST00000494148.1:n.125-72A=
NM_000420.2:c.526-72A= NP_000411.1:n.526-72A=
XM_005249993.2:c.562-72A= XP_005250050.1:n.562-72A=
NM_000420.3:c.526-72A= MANE Select NP_000411.1:n.526-72A=