Canonical Allele Identifier: CA1948225509

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583697_2583700delinsGCCC , CM000673.2:g.2583697_2583700delinsGCCC	GRCh38
NC_000011.9:g.2604927_2604930delinsGCCC , CM000673.1:g.2604927_2604930delinsGCCC	GRCh37
NC_000011.8:g.2561503_2561506delinsGCCC	NCBI36
NG_008935.1:g.143707_143710delinsGCCC , LRG_287:g.143707_143710delinsGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+152_771+155delinsGCCC	ENSP00000434560.2:n.771+152_771+155delinsGCCC
ENST00000646564.2:c.588+152_588+155delinsGCCC	ENSP00000495806.2:n.588+152_588+155delinsGCCC
ENST00000155840.12:c.1032+152_1032+155delinsGCCC MANE Select	ENSP00000155840.2:n.1032+152_1032+155delinsGCCC
ENST00000335475.6:c.651+152_651+155delinsGCCC	ENSP00000334497.5:n.651+152_651+155delinsGCCC
ENST00000646564.1:c.234+152_234+155delinsGCCC	ENSP00000495806.1:n.234+152_234+155delinsGCCC
ENST00000155840.9:c.1032+152_1032+155delinsGCCC	ENSP00000155840.2:n.1032+152_1032+155delinsGCCC
ENST00000335475.5:c.651+152_651+155delinsGCCC	ENSP00000334497.5:n.651+152_651+155delinsGCCC
NM_000218.2:c.1032+152_1032+155delinsGCCC , LRG_287t1:c.1032+152_1032+155delinsGCCC	NP_000209.2:n.1032+152_1032+155delinsGCCC
NM_181798.1:c.651+152_651+155delinsGCCC , LRG_287t2:c.651+152_651+155delinsGCCC	NP_861463.1:n.651+152_651+155delinsGCCC
NM_000218.3:c.1032+152_1032+155delinsGCCC MANE Select	NP_000209.2:n.1032+152_1032+155delinsGCCC