Canonical Allele Identifier: CA2790208732
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2822925_2822926del , CM000673.2:g.2822925_2822926del GRCh38
NC_000011.9:g.2844155_2844156del , CM000673.1:g.2844155_2844156del GRCh37
NC_000011.8:g.2800731_2800732del NCBI36
NG_008935.1:g.382935_382936del , LRG_287:g.382935_382936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-24842_1438-24841del ENSP00000434560.2:n.1438-24842_1438-24841del
ENST00000646564.2:c.1255-16791_1255-16790del ENSP00000495806.2:n.1255-16791_1255-16790del
ENST00000155840.12:c.1795-24842_1795-24841del MANE Select ENSP00000155840.2:n.1795-24842_1795-24841del
ENST00000335475.6:c.1414-24842_1414-24841del ENSP00000334497.5:n.1414-24842_1414-24841del
ENST00000526095.2:c.199-24842_199-24841del ENSP00000494939.1:n.199-24842_199-24841del
ENST00000646564.1:c.901-16791_901-16790del ENSP00000495806.1:n.901-16791_901-16790del
ENST00000155840.9:c.1795-24842_1795-24841del ENSP00000155840.2:n.1795-24842_1795-24841del
ENST00000335475.5:c.1414-24842_1414-24841del ENSP00000334497.5:n.1414-24842_1414-24841del
ENST00000526095.1:n.302-24842_302-24841del
NM_000218.2:c.1795-24842_1795-24841del , LRG_287t1:c.1795-24842_1795-24841del NP_000209.2:n.1795-24842_1795-24841del
NM_181798.1:c.1414-24842_1414-24841del , LRG_287t2:c.1414-24842_1414-24841del NP_861463.1:n.1414-24842_1414-24841del
NM_000218.3:c.1795-24842_1795-24841del MANE Select NP_000209.2:n.1795-24842_1795-24841del