Canonical Allele Identifier: CA1948236552
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588905_2588906delinsCT , CM000673.2:g.2588905_2588906delinsCT GRCh38
NC_000011.9:g.2610135_2610136delinsCT , CM000673.1:g.2610135_2610136delinsCT GRCh37
NC_000011.8:g.2566711_2566712delinsCT NCBI36
NG_008935.1:g.148915_148916delinsCT , LRG_287:g.148915_148916delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+51_1036+52delinsCT ENSP00000434560.2:n.1036+51_1036+52delinsCT
ENST00000646564.2:c.853+51_853+52delinsCT ENSP00000495806.2:n.853+51_853+52delinsCT
ENST00000155840.12:c.1393+51_1393+52delinsCT MANE Select ENSP00000155840.2:n.1393+51_1393+52delinsCT
ENST00000335475.6:c.1012+51_1012+52delinsCT ENSP00000334497.5:n.1012+51_1012+52delinsCT
ENST00000646564.1:c.499+51_499+52delinsCT ENSP00000495806.1:n.499+51_499+52delinsCT
ENST00000155840.9:c.1393+51_1393+52delinsCT ENSP00000155840.2:n.1393+51_1393+52delinsCT
ENST00000335475.5:c.1012+51_1012+52delinsCT ENSP00000334497.5:n.1012+51_1012+52delinsCT
NM_000218.2:c.1393+51_1393+52delinsCT , LRG_287t1:c.1393+51_1393+52delinsCT NP_000209.2:n.1393+51_1393+52delinsCT
NM_181798.1:c.1012+51_1012+52delinsCT , LRG_287t2:c.1012+51_1012+52delinsCT NP_861463.1:n.1012+51_1012+52delinsCT
NM_000218.3:c.1393+51_1393+52delinsCT MANE Select NP_000209.2:n.1393+51_1393+52delinsCT