Canonical Allele Identifier: CA1948228903

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585243_2585249delinsTGCAGCA , CM000673.2:g.2585243_2585249delinsTGCAGCA	GRCh38
NC_000011.9:g.2606473_2606479delinsTGCAGCA , CM000673.1:g.2606473_2606479delinsTGCAGCA	GRCh37
NC_000011.8:g.2563049_2563055delinsTGCAGCA	NCBI36
NG_008935.1:g.145253_145259delinsTGCAGCA , LRG_287:g.145253_145259delinsTGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1698_771+1704delinsTGCAGCA	ENSP00000434560.2:n.771+1698_771+1704delinsTGCAGCA
ENST00000646564.2:c.588+1698_588+1704delinsTGCAGCA	ENSP00000495806.2:n.588+1698_588+1704delinsTGCAGCA
ENST00000155840.12:c.1064_1070delinsTGCAGCA MANE Select	ENSP00000155840.2:p.Val355=
ENST00000335475.6:c.683_689delinsTGCAGCA	ENSP00000334497.5:p.Val228=
ENST00000646564.1:c.234+1698_234+1704delinsTGCAGCA	ENSP00000495806.1:n.234+1698_234+1704delinsTGCAGCA
ENST00000155840.9:c.1064_1070delinsTGCAGCA	ENSP00000155840.2:p.Val355=
ENST00000335475.5:c.683_689delinsTGCAGCA	ENSP00000334497.5:p.Val228=
NM_000218.2:c.1064_1070delinsTGCAGCA , LRG_287t1:c.1064_1070delinsTGCAGCA	NP_000209.2:p.Val355=
NM_181798.1:c.683_689delinsTGCAGCA , LRG_287t2:c.683_689delinsTGCAGCA	NP_861463.1:p.Val228=
NM_000218.3:c.1064_1070delinsTGCAGCA MANE Select	NP_000209.2:p.Val355=