Canonical Allele Identifier: CA2612008735
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768977_2768981del , CM000673.2:g.2768977_2768981del GRCh38
NC_000011.9:g.2790207_2790211del , CM000673.1:g.2790207_2790211del GRCh37
NC_000011.8:g.2746783_2746787del NCBI36
NG_008935.1:g.328987_328991del , LRG_287:g.328987_328991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1233+58_1233+62del ENSP00000434560.2:n.1233+58_1233+62del
ENST00000646564.2:c.1050+58_1050+62del ENSP00000495806.2:n.1050+58_1050+62del
ENST00000155840.12:c.1590+58_1590+62del MANE Select ENSP00000155840.2:n.1590+58_1590+62del
ENST00000335475.6:c.1209+58_1209+62del ENSP00000334497.5:n.1209+58_1209+62del
ENST00000646564.1:c.696+58_696+62del ENSP00000495806.1:n.696+58_696+62del
ENST00000155840.9:c.1590+58_1590+62del ENSP00000155840.2:n.1590+58_1590+62del
ENST00000335475.5:c.1209+58_1209+62del ENSP00000334497.5:n.1209+58_1209+62del
NM_000218.2:c.1590+58_1590+62del , LRG_287t1:c.1590+58_1590+62del NP_000209.2:n.1590+58_1590+62del
NM_181798.1:c.1209+58_1209+62del , LRG_287t2:c.1209+58_1209+62del NP_861463.1:n.1209+58_1209+62del
NM_000218.3:c.1590+58_1590+62del MANE Select NP_000209.2:n.1590+58_1590+62del