Canonical Allele Identifier: CA2544163288
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583605_2583606insG , CM000673.2:g.2583605_2583606insG GRCh38
NC_000011.9:g.2604835_2604836insG , CM000673.1:g.2604835_2604836insG GRCh37
NC_000011.8:g.2561411_2561412insG NCBI36
NG_008935.1:g.143615_143616insG , LRG_287:g.143615_143616insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+60_771+61insG ENSP00000434560.2:n.771+60_771+61insG
ENST00000646564.2:c.588+60_588+61insG ENSP00000495806.2:n.588+60_588+61insG
ENST00000155840.12:c.1032+60_1032+61insG MANE Select ENSP00000155840.2:n.1032+60_1032+61insG
ENST00000335475.6:c.651+60_651+61insG ENSP00000334497.5:n.651+60_651+61insG
ENST00000646564.1:c.234+60_234+61insG ENSP00000495806.1:n.234+60_234+61insG
ENST00000155840.9:c.1032+60_1032+61insG ENSP00000155840.2:n.1032+60_1032+61insG
ENST00000335475.5:c.651+60_651+61insG ENSP00000334497.5:n.651+60_651+61insG
NM_000218.2:c.1032+60_1032+61insG , LRG_287t1:c.1032+60_1032+61insG NP_000209.2:n.1032+60_1032+61insG
NM_181798.1:c.651+60_651+61insG , LRG_287t2:c.651+60_651+61insG NP_861463.1:n.651+60_651+61insG
NM_000218.3:c.1032+60_1032+61insG MANE Select NP_000209.2:n.1032+60_1032+61insG