Canonical Allele Identifier: CA1948236668

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588972_2588976delinsGAACA , CM000673.2:g.2588972_2588976delinsGAACA	GRCh38
NC_000011.9:g.2610202_2610206delinsGAACA , CM000673.1:g.2610202_2610206delinsGAACA	GRCh37
NC_000011.8:g.2566778_2566782delinsGAACA	NCBI36
NG_008935.1:g.148982_148986delinsGAACA , LRG_287:g.148982_148986delinsGAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+118_1036+122delinsGAACA	ENSP00000434560.2:n.1036+118_1036+122delinsGAACA
ENST00000646564.2:c.853+118_853+122delinsGAACA	ENSP00000495806.2:n.853+118_853+122delinsGAACA
ENST00000155840.12:c.1393+118_1393+122delinsGAACA MANE Select	ENSP00000155840.2:n.1393+118_1393+122delinsGAACA
ENST00000335475.6:c.1012+118_1012+122delinsGAACA	ENSP00000334497.5:n.1012+118_1012+122delinsGAACA
ENST00000646564.1:c.499+118_499+122delinsGAACA	ENSP00000495806.1:n.499+118_499+122delinsGAACA
ENST00000155840.9:c.1393+118_1393+122delinsGAACA	ENSP00000155840.2:n.1393+118_1393+122delinsGAACA
ENST00000335475.5:c.1012+118_1012+122delinsGAACA	ENSP00000334497.5:n.1012+118_1012+122delinsGAACA
NM_000218.2:c.1393+118_1393+122delinsGAACA , LRG_287t1:c.1393+118_1393+122delinsGAACA	NP_000209.2:n.1393+118_1393+122delinsGAACA
NM_181798.1:c.1012+118_1012+122delinsGAACA , LRG_287t2:c.1012+118_1012+122delinsGAACA	NP_861463.1:n.1012+118_1012+122delinsGAACA
NM_000218.3:c.1393+118_1393+122delinsGAACA MANE Select	NP_000209.2:n.1393+118_1393+122delinsGAACA