Canonical Allele Identifier: CA2612002404

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583324-GGGTCTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583326_2583333del , CM000673.2:g.2583326_2583333del	GRCh38
NC_000011.9:g.2604556_2604563del , CM000673.1:g.2604556_2604563del	GRCh37
NC_000011.8:g.2561132_2561139del	NCBI36
NG_008935.1:g.143336_143343del , LRG_287:g.143336_143343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-109_661-102del	ENSP00000434560.2:n.661-109_661-102del
ENST00000646564.2:c.478-109_478-102del	ENSP00000495806.2:n.478-109_478-102del
ENST00000155840.12:c.922-109_922-102del MANE Select	ENSP00000155840.2:n.922-109_922-102del
ENST00000335475.6:c.541-109_541-102del	ENSP00000334497.5:n.541-109_541-102del
ENST00000646564.1:c.124-109_124-102del	ENSP00000495806.1:n.124-109_124-102del
ENST00000155840.9:c.922-109_922-102del	ENSP00000155840.2:n.922-109_922-102del
ENST00000335475.5:c.541-109_541-102del	ENSP00000334497.5:n.541-109_541-102del
NM_000218.2:c.922-109_922-102del , LRG_287t1:c.922-109_922-102del	NP_000209.2:n.922-109_922-102del
NM_181798.1:c.541-109_541-102del , LRG_287t2:c.541-109_541-102del	NP_861463.1:n.541-109_541-102del
NM_000218.3:c.922-109_922-102del MANE Select	NP_000209.2:n.922-109_922-102del