Canonical Allele Identifier: CA1948225511

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848540717

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583698_2583700del , CM000673.2:g.2583698_2583700del	GRCh38
NC_000011.9:g.2604928_2604930del , CM000673.1:g.2604928_2604930del	GRCh37
NC_000011.8:g.2561504_2561506del	NCBI36
NG_008935.1:g.143708_143710del , LRG_287:g.143708_143710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+153_771+155del	ENSP00000434560.2:n.771+153_771+155del
ENST00000646564.2:c.588+153_588+155del	ENSP00000495806.2:n.588+153_588+155del
ENST00000155840.12:c.1032+153_1032+155del MANE Select	ENSP00000155840.2:n.1032+153_1032+155del
ENST00000335475.6:c.651+153_651+155del	ENSP00000334497.5:n.651+153_651+155del
ENST00000646564.1:c.234+153_234+155del	ENSP00000495806.1:n.234+153_234+155del
ENST00000155840.9:c.1032+153_1032+155del	ENSP00000155840.2:n.1032+153_1032+155del
ENST00000335475.5:c.651+153_651+155del	ENSP00000334497.5:n.651+153_651+155del
NM_000218.2:c.1032+153_1032+155del , LRG_287t1:c.1032+153_1032+155del	NP_000209.2:n.1032+153_1032+155del
NM_181798.1:c.651+153_651+155del , LRG_287t2:c.651+153_651+155del	NP_861463.1:n.651+153_651+155del
NM_000218.3:c.1032+153_1032+155del MANE Select	NP_000209.2:n.1032+153_1032+155del