Canonical Allele Identifier: CA2525755366

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959666_150959667insTTTTTT , CM000669.2:g.150959666_150959667insTTTTTT	GRCh38
NC_000007.13:g.150656754_150656755insTTTTTT , CM000669.1:g.150656754_150656755insTTTTTT	GRCh37
NC_000007.12:g.150287687_150287688insTTTTTT	NCBI36
NG_008916.1:g.23260_23261insAAAAAA , LRG_288:g.23260_23261insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1210_1211insAAAAAA
ENST00000262186.10:c.377_378insAAAAAA MANE Select	ENSP00000262186.5:p.Ile126_Leu127insLysAsn
ENST00000262186.9:c.377_378insAAAAAA	ENSP00000262186.5:p.Ile126_Leu127insLysAsn
ENST00000430723.4:c.200_201insAAAAAA	ENSP00000387657.4:p.Ile67_Leu68insLysAsn
ENST00000532957.5:n.600_601insAAAAAA
NM_000238.3:c.377_378insAAAAAA , LRG_288t1:c.377_378insAAAAAA	NP_000229.1:p.Ile126_Leu127insLysAsn
NM_172056.2:c.377_378insAAAAAA , LRG_288t2:c.377_378insAAAAAA	NP_742053.1:p.Ile126_Leu127insLysAsn
XM_011516185.1:c.77_78insAAAAAA	XP_011514487.1:p.Ile26_Leu27insLysAsn
XM_011516186.1:c.377_378insAAAAAA	XP_011514488.1:p.Ile126_Leu127insLysAsn
XM_011516185.2:c.77_78insAAAAAA	XP_011514487.1:p.Ile26_Leu27insLysAsn
XM_011516186.3:c.377_378insAAAAAA	XP_011514488.1:p.Ile126_Leu127insLysAsn
XM_017012195.1:c.227_228insAAAAAA	XP_016867684.1:p.Ile76_Leu77insLysAsn
XM_017012196.1:c.200_201insAAAAAA	XP_016867685.1:p.Ile67_Leu68insLysAsn
NM_000238.4:c.377_378insAAAAAA MANE Select	NP_000229.1:p.Ile126_Leu127insLysAsn