Canonical Allele Identifier: CA2612002402

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583323-AGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583324_2583327del , CM000673.2:g.2583324_2583327del	GRCh38
NC_000011.9:g.2604554_2604557del , CM000673.1:g.2604554_2604557del	GRCh37
NC_000011.8:g.2561130_2561133del	NCBI36
NG_008935.1:g.143334_143337del , LRG_287:g.143334_143337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-111_661-108del	ENSP00000434560.2:n.661-111_661-108del
ENST00000646564.2:c.478-111_478-108del	ENSP00000495806.2:n.478-111_478-108del
ENST00000155840.12:c.922-111_922-108del MANE Select	ENSP00000155840.2:n.922-111_922-108del
ENST00000335475.6:c.541-111_541-108del	ENSP00000334497.5:n.541-111_541-108del
ENST00000646564.1:c.124-111_124-108del	ENSP00000495806.1:n.124-111_124-108del
ENST00000155840.9:c.922-111_922-108del	ENSP00000155840.2:n.922-111_922-108del
ENST00000335475.5:c.541-111_541-108del	ENSP00000334497.5:n.541-111_541-108del
NM_000218.2:c.922-111_922-108del , LRG_287t1:c.922-111_922-108del	NP_000209.2:n.922-111_922-108del
NM_181798.1:c.541-111_541-108del , LRG_287t2:c.541-111_541-108del	NP_861463.1:n.541-111_541-108del
NM_000218.3:c.922-111_922-108del MANE Select	NP_000209.2:n.922-111_922-108del