Canonical Allele Identifier: CA2612002720

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583688-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583692del , CM000673.2:g.2583692del	GRCh38
NC_000011.9:g.2604922del , CM000673.1:g.2604922del	GRCh37
NC_000011.8:g.2561498del	NCBI36
NG_008935.1:g.143702del , LRG_287:g.143702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+147del	ENSP00000434560.2:n.771+147del
ENST00000646564.2:c.588+147del	ENSP00000495806.2:n.588+147del
ENST00000155840.12:c.1032+147del MANE Select	ENSP00000155840.2:n.1032+147del
ENST00000335475.6:c.651+147del	ENSP00000334497.5:n.651+147del
ENST00000646564.1:c.234+147del	ENSP00000495806.1:n.234+147del
ENST00000155840.9:c.1032+147del	ENSP00000155840.2:n.1032+147del
ENST00000335475.5:c.651+147del	ENSP00000334497.5:n.651+147del
NM_000218.2:c.1032+147del , LRG_287t1:c.1032+147del	NP_000209.2:n.1032+147del
NM_181798.1:c.651+147del , LRG_287t2:c.651+147del	NP_861463.1:n.651+147del
NM_000218.3:c.1032+147del MANE Select	NP_000209.2:n.1032+147del