Canonical Allele Identifier: CA2574728256
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587497del , CM000673.2:g.2587497del GRCh38
NC_000011.9:g.2608727del , CM000673.1:g.2608727del GRCh37
NC_000011.8:g.2565303del NCBI36
NG_008935.1:g.147507del , LRG_287:g.147507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.772-73del ENSP00000434560.2:n.772-73del
ENST00000646564.2:c.589-73del ENSP00000495806.2:n.589-73del
ENST00000155840.12:c.1129-73del MANE Select ENSP00000155840.2:n.1129-73del
ENST00000335475.6:c.748-73del ENSP00000334497.5:n.748-73del
ENST00000646564.1:c.235-73del ENSP00000495806.1:n.235-73del
ENST00000155840.9:c.1129-73del ENSP00000155840.2:n.1129-73del
ENST00000335475.5:c.748-73del ENSP00000334497.5:n.748-73del
NM_000218.2:c.1129-73del , LRG_287t1:c.1129-73del NP_000209.2:n.1129-73del
NM_181798.1:c.748-73del , LRG_287t2:c.748-73del NP_861463.1:n.748-73del
NM_000218.3:c.1129-73del MANE Select NP_000209.2:n.1129-73del