Canonical Allele Identifier: CA1948225615

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583786_2583790delinsGTGCA , CM000673.2:g.2583786_2583790delinsGTGCA	GRCh38
NC_000011.9:g.2605016_2605020delinsGTGCA , CM000673.1:g.2605016_2605020delinsGTGCA	GRCh37
NC_000011.8:g.2561592_2561596delinsGTGCA	NCBI36
NG_008935.1:g.143796_143800delinsGTGCA , LRG_287:g.143796_143800delinsGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+241_771+245delinsGTGCA	ENSP00000434560.2:n.771+241_771+245delinsGTGCA
ENST00000646564.2:c.588+241_588+245delinsGTGCA	ENSP00000495806.2:n.588+241_588+245delinsGTGCA
ENST00000155840.12:c.1032+241_1032+245delinsGTGCA MANE Select	ENSP00000155840.2:n.1032+241_1032+245delinsGTGCA
ENST00000335475.6:c.651+241_651+245delinsGTGCA	ENSP00000334497.5:n.651+241_651+245delinsGTGCA
ENST00000646564.1:c.234+241_234+245delinsGTGCA	ENSP00000495806.1:n.234+241_234+245delinsGTGCA
ENST00000155840.9:c.1032+241_1032+245delinsGTGCA	ENSP00000155840.2:n.1032+241_1032+245delinsGTGCA
ENST00000335475.5:c.651+241_651+245delinsGTGCA	ENSP00000334497.5:n.651+241_651+245delinsGTGCA
NM_000218.2:c.1032+241_1032+245delinsGTGCA , LRG_287t1:c.1032+241_1032+245delinsGTGCA	NP_000209.2:n.1032+241_1032+245delinsGTGCA
NM_181798.1:c.651+241_651+245delinsGTGCA , LRG_287t2:c.651+241_651+245delinsGTGCA	NP_861463.1:n.651+241_651+245delinsGTGCA
NM_000218.3:c.1032+241_1032+245delinsGTGCA MANE Select	NP_000209.2:n.1032+241_1032+245delinsGTGCA