Canonical Allele Identifier: CA2612004423
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588880del , CM000673.2:g.2588880del GRCh38
NC_000011.9:g.2610110del , CM000673.1:g.2610110del GRCh37
NC_000011.8:g.2566686del NCBI36
NG_008935.1:g.148890del , LRG_287:g.148890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+26del ENSP00000434560.2:n.1036+26del
ENST00000646564.2:c.853+26del ENSP00000495806.2:n.853+26del
ENST00000155840.12:c.1393+26del MANE Select ENSP00000155840.2:n.1393+26del
ENST00000335475.6:c.1012+26del ENSP00000334497.5:n.1012+26del
ENST00000646564.1:c.499+26del ENSP00000495806.1:n.499+26del
ENST00000155840.9:c.1393+26del ENSP00000155840.2:n.1393+26del
ENST00000335475.5:c.1012+26del ENSP00000334497.5:n.1012+26del
NM_000218.2:c.1393+26del , LRG_287t1:c.1393+26del NP_000209.2:n.1393+26del
NM_181798.1:c.1012+26del , LRG_287t2:c.1012+26del NP_861463.1:n.1012+26del
NM_000218.3:c.1393+26del MANE Select NP_000209.2:n.1393+26del