Canonical Allele Identifier: CA1752446037

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977780_150977785delinsGGAAGA , CM000669.2:g.150977780_150977785delinsGGAAGA	GRCh38
NC_000007.13:g.150674868_150674873delinsGGAAGA , CM000669.1:g.150674868_150674873delinsGGAAGA	GRCh37
NC_000007.12:g.150305801_150305806delinsGGAAGA	NCBI36
NG_008916.1:g.5142_5147delinsTCTTCC , LRG_288:g.5142_5147delinsTCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+53_76+58delinsTCTTCC MANE Select	ENSP00000262186.5:n.76+53_76+58delinsTCTTCC
ENST00000262186.9:c.76+53_76+58delinsTCTTCC	ENSP00000262186.5:n.76+53_76+58delinsTCTTCC
ENST00000430723.4:c.-102+53_-102+58delinsTCTTCC	ENSP00000387657.4:n.-102+53_-102+58delinsTCTTCC
ENST00000532957.5:n.299+53_299+58delinsTCTTCC
NM_000238.3:c.76+53_76+58delinsTCTTCC , LRG_288t1:c.76+53_76+58delinsTCTTCC	NP_000229.1:n.76+53_76+58delinsTCTTCC
NM_172056.2:c.76+53_76+58delinsTCTTCC , LRG_288t2:c.76+53_76+58delinsTCTTCC	NP_742053.1:n.76+53_76+58delinsTCTTCC
XM_011516186.1:c.76+53_76+58delinsTCTTCC	XP_011514488.1:n.76+53_76+58delinsTCTTCC
XM_011516186.3:c.76+53_76+58delinsTCTTCC	XP_011514488.1:n.76+53_76+58delinsTCTTCC
NM_000238.4:c.76+53_76+58delinsTCTTCC MANE Select	NP_000229.1:n.76+53_76+58delinsTCTTCC