Canonical Allele Identifier: CA1752430560

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947889_150947891delinsCAG , CM000669.2:g.150947889_150947891delinsCAG	GRCh38
NC_000007.13:g.150644977_150644979delinsCAG , CM000669.1:g.150644977_150644979delinsCAG	GRCh37
NC_000007.12:g.150275910_150275912delinsCAG	NCBI36
NG_008916.1:g.35036_35038delinsCTG , LRG_288:g.35036_35038delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-13_3526-11delinsCTG
ENST00000262186.10:c.2693-13_2693-11delinsCTG MANE Select	ENSP00000262186.5:n.2693-13_2693-11delinsCTG
ENST00000330883.9:c.1673-13_1673-11delinsCTG	ENSP00000328531.4:n.1673-13_1673-11delinsCTG
ENST00000262186.9:c.2693-13_2693-11delinsCTG	ENSP00000262186.5:n.2693-13_2693-11delinsCTG
ENST00000330883.8:c.1673-13_1673-11delinsCTG	ENSP00000328531.4:n.1673-13_1673-11delinsCTG
NM_000238.3:c.2693-13_2693-11delinsCTG , LRG_288t1:c.2693-13_2693-11delinsCTG	NP_000229.1:n.2693-13_2693-11delinsCTG
NM_172057.2:c.1673-13_1673-11delinsCTG , LRG_288t3:c.1673-13_1673-11delinsCTG	NP_742054.1:n.1673-13_1673-11delinsCTG
XM_011516185.1:c.2393-13_2393-11delinsCTG	XP_011514487.1:n.2393-13_2393-11delinsCTG
XM_011516186.1:c.2693-200_2693-198delinsCTG	XP_011514488.1:n.2693-200_2693-198delinsCTG
XM_011516185.2:c.2393-13_2393-11delinsCTG	XP_011514487.1:n.2393-13_2393-11delinsCTG
XM_011516186.3:c.2693-200_2693-198delinsCTG	XP_011514488.1:n.2693-200_2693-198delinsCTG
XM_017012195.1:c.2543-13_2543-11delinsCTG	XP_016867684.1:n.2543-13_2543-11delinsCTG
XM_017012196.1:c.2516-13_2516-11delinsCTG	XP_016867685.1:n.2516-13_2516-11delinsCTG
NM_000238.4:c.2693-13_2693-11delinsCTG MANE Select	NP_000229.1:n.2693-13_2693-11delinsCTG
NM_172057.3:c.1673-13_1673-11delinsCTG	NP_742054.1:n.1673-13_1673-11delinsCTG