Canonical Allele Identifier: CA1752446587

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977924_150977933delinsTGGGCGGGCC , CM000669.2:g.150977924_150977933delinsTGGGCGGGCC	GRCh38
NC_000007.13:g.150675012_150675021delinsTGGGCGGGCC , CM000669.1:g.150675012_150675021delinsTGGGCGGGCC	GRCh37
NC_000007.12:g.150305945_150305954delinsTGGGCGGGCC	NCBI36
NG_008916.1:g.4994_5003delinsGGCCCGCCCA , LRG_288:g.4994_5003delinsGGCCCGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.-20_-11delinsGGCCCGCCCA MANE Select	ENSP00000262186.5:n.-20_-11delinsGGCCCGCCCA
ENST00000262186.9:c.-20_-11delinsGGCCCGCCCA	ENSP00000262186.5:n.-20_-11delinsGGCCCGCCCA
ENST00000430723.4:c.-196-1_-188delinsGGCCCGCCCA
ENST00000532957.5:n.204_213delinsGGCCCGCCCA
NM_000238.3:c.-20_-11delinsGGCCCGCCCA , LRG_288t1:c.-20_-11delinsGGCCCGCCCA	NP_000229.1:n.-20_-11delinsGGCCCGCCCA
NM_172056.2:c.-20_-11delinsGGCCCGCCCA , LRG_288t2:c.-20_-11delinsGGCCCGCCCA	NP_742053.1:n.-20_-11delinsGGCCCGCCCA
XM_011516186.1:c.-20_-11delinsGGCCCGCCCA	XP_011514488.1:n.-20_-11delinsGGCCCGCCCA
XM_011516186.3:c.-20_-11delinsGGCCCGCCCA	XP_011514488.1:n.-20_-11delinsGGCCCGCCCA
NM_000238.4:c.-20_-11delinsGGCCCGCCCA MANE Select	NP_000229.1:n.-20_-11delinsGGCCCGCCCA