Canonical Allele Identifier: CA2839553791
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777949del , CM000673.2:g.2777949del GRCh38
NC_000011.9:g.2799179del , CM000673.1:g.2799179del GRCh37
NC_000011.8:g.2755755del NCBI36
NG_008935.1:g.337959del , LRG_287:g.337959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1376-27del ENSP00000434560.2:n.1376-27del
ENST00000646564.2:c.1193-27del ENSP00000495806.2:n.1193-27del
ENST00000155840.12:c.1733-27del MANE Select ENSP00000155840.2:n.1733-27del
ENST00000335475.6:c.1352-27del ENSP00000334497.5:n.1352-27del
ENST00000526095.2:c.137-27del ENSP00000494939.1:n.137-27del
ENST00000646564.1:c.839-27del ENSP00000495806.1:n.839-27del
ENST00000155840.9:c.1733-27del ENSP00000155840.2:n.1733-27del
ENST00000335475.5:c.1352-27del ENSP00000334497.5:n.1352-27del
ENST00000526095.1:n.240-27del
NM_000218.2:c.1733-27del , LRG_287t1:c.1733-27del NP_000209.2:n.1733-27del
NM_181798.1:c.1352-27del , LRG_287t2:c.1352-27del NP_861463.1:n.1352-27del
NM_000218.3:c.1733-27del MANE Select NP_000209.2:n.1733-27del