Canonical Allele Identifier: CA2612003141

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2528161-A-AGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528161_2528162insGGTG , CM000673.2:g.2528161_2528162insGGTG	GRCh38
NC_000011.9:g.2549391_2549392insGGTG , CM000673.1:g.2549391_2549392insGGTG	GRCh37
NC_000011.8:g.2505967_2505968insGGTG	NCBI36
NG_008935.1:g.88171_88172insGGTG , LRG_287:g.88171_88172insGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+143_216+144insGGTG	ENSP00000434560.2:n.216+143_216+144insGGTG
ENST00000646564.2:c.477+143_477+144insGGTG	ENSP00000495806.2:n.477+143_477+144insGGTG
ENST00000155840.12:c.477+143_477+144insGGTG MANE Select	ENSP00000155840.2:n.477+143_477+144insGGTG
ENST00000335475.6:c.96+143_96+144insGGTG	ENSP00000334497.5:n.96+143_96+144insGGTG
ENST00000646564.1:c.123+143_123+144insGGTG	ENSP00000495806.1:n.123+143_123+144insGGTG
ENST00000155840.9:c.477+143_477+144insGGTG	ENSP00000155840.2:n.477+143_477+144insGGTG
ENST00000335475.5:c.96+143_96+144insGGTG	ENSP00000334497.5:n.96+143_96+144insGGTG
ENST00000496887.6:c.216+143_216+144insGGTG	ENSP00000434560.1:n.216+143_216+144insGGTG
NM_000218.2:c.477+143_477+144insGGTG , LRG_287t1:c.477+143_477+144insGGTG	NP_000209.2:n.477+143_477+144insGGTG
NM_181798.1:c.96+143_96+144insGGTG , LRG_287t2:c.96+143_96+144insGGTG	NP_861463.1:n.96+143_96+144insGGTG
NM_000218.3:c.477+143_477+144insGGTG MANE Select	NP_000209.2:n.477+143_477+144insGGTG