Canonical Allele Identifier: CA1948336752

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2822926_2822928delinsTAA , CM000673.2:g.2822926_2822928delinsTAA	GRCh38
NC_000011.9:g.2844156_2844158delinsTAA , CM000673.1:g.2844156_2844158delinsTAA	GRCh37
NC_000011.8:g.2800732_2800734delinsTAA	NCBI36
NG_008935.1:g.382936_382938delinsTAA , LRG_287:g.382936_382938delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-24841_1438-24839delinsTAA	ENSP00000434560.2:n.1438-24841_1438-24839delinsTAA
ENST00000646564.2:c.1255-16790_1255-16788delinsTAA	ENSP00000495806.2:n.1255-16790_1255-16788delinsTAA
ENST00000155840.12:c.1795-24841_1795-24839delinsTAA MANE Select	ENSP00000155840.2:n.1795-24841_1795-24839delinsTAA
ENST00000335475.6:c.1414-24841_1414-24839delinsTAA	ENSP00000334497.5:n.1414-24841_1414-24839delinsTAA
ENST00000526095.2:c.199-24841_199-24839delinsTAA	ENSP00000494939.1:n.199-24841_199-24839delinsTAA
ENST00000646564.1:c.901-16790_901-16788delinsTAA	ENSP00000495806.1:n.901-16790_901-16788delinsTAA
ENST00000155840.9:c.1795-24841_1795-24839delinsTAA	ENSP00000155840.2:n.1795-24841_1795-24839delinsTAA
ENST00000335475.5:c.1414-24841_1414-24839delinsTAA	ENSP00000334497.5:n.1414-24841_1414-24839delinsTAA
ENST00000526095.1:n.302-24841_302-24839delinsTAA
NM_000218.2:c.1795-24841_1795-24839delinsTAA , LRG_287t1:c.1795-24841_1795-24839delinsTAA	NP_000209.2:n.1795-24841_1795-24839delinsTAA
NM_181798.1:c.1414-24841_1414-24839delinsTAA , LRG_287t2:c.1414-24841_1414-24839delinsTAA	NP_861463.1:n.1414-24841_1414-24839delinsTAA
NM_000218.3:c.1795-24841_1795-24839delinsTAA MANE Select	NP_000209.2:n.1795-24841_1795-24839delinsTAA