Canonical Allele Identifier: CA1752420240

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959803_150959810delinsATGGACCC , CM000669.2:g.150959803_150959810delinsATGGACCC	GRCh38
NC_000007.13:g.150656891_150656898delinsATGGACCC , CM000669.1:g.150656891_150656898delinsATGGACCC	GRCh37
NC_000007.12:g.150287824_150287831delinsATGGACCC	NCBI36
NG_008916.1:g.23117_23124delinsGGGTCCAT , LRG_288:g.23117_23124delinsGGGTCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1067_1074delinsGGGTCCAT
ENST00000262186.10:c.308-74_308-67delinsGGGTCCAT MANE Select	ENSP00000262186.5:n.308-74_308-67delinsGGGTCCAT
ENST00000262186.9:c.308-74_308-67delinsGGGTCCAT	ENSP00000262186.5:n.308-74_308-67delinsGGGTCCAT
ENST00000430723.4:c.131-74_131-67delinsGGGTCCAT	ENSP00000387657.4:n.131-74_131-67delinsGGGTCCAT
ENST00000532957.5:n.531-74_531-67delinsGGGTCCAT
NM_000238.3:c.308-74_308-67delinsGGGTCCAT , LRG_288t1:c.308-74_308-67delinsGGGTCCAT	NP_000229.1:n.308-74_308-67delinsGGGTCCAT
NM_172056.2:c.308-74_308-67delinsGGGTCCAT , LRG_288t2:c.308-74_308-67delinsGGGTCCAT	NP_742053.1:n.308-74_308-67delinsGGGTCCAT
XM_011516185.1:c.8-74_8-67delinsGGGTCCAT	XP_011514487.1:n.8-74_8-67delinsGGGTCCAT
XM_011516186.1:c.308-74_308-67delinsGGGTCCAT	XP_011514488.1:n.308-74_308-67delinsGGGTCCAT
XM_011516185.2:c.8-74_8-67delinsGGGTCCAT	XP_011514487.1:n.8-74_8-67delinsGGGTCCAT
XM_011516186.3:c.308-74_308-67delinsGGGTCCAT	XP_011514488.1:n.308-74_308-67delinsGGGTCCAT
XM_017012195.1:c.158-74_158-67delinsGGGTCCAT	XP_016867684.1:n.158-74_158-67delinsGGGTCCAT
XM_017012196.1:c.131-74_131-67delinsGGGTCCAT	XP_016867685.1:n.131-74_131-67delinsGGGTCCAT
NM_000238.4:c.308-74_308-67delinsGGGTCCAT MANE Select	NP_000229.1:n.308-74_308-67delinsGGGTCCAT