Canonical Allele Identifier: CA2685606643

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977764-CCCCCCATCCACACTCGGAAGAGCTCGGCCCGCCCCCAGAGCCCCCTCCCCGCTCAGCCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977771_150977832del , CM000669.2:g.150977771_150977832del	GRCh38
NC_000007.13:g.150674859_150674920del , CM000669.1:g.150674859_150674920del	GRCh37
NC_000007.12:g.150305792_150305853del	NCBI36
NG_008916.1:g.5101_5162del , LRG_288:g.5101_5162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+12_76+73del MANE Select	ENSP00000262186.5:n.76+12_76+73del
ENST00000262186.9:c.76+12_76+73del	ENSP00000262186.5:n.76+12_76+73del
ENST00000430723.4:c.-102+12_-102+73del	ENSP00000387657.4:n.-102+12_-102+73del
ENST00000532957.5:n.299+12_299+73del
NM_000238.3:c.76+12_76+73del , LRG_288t1:c.76+12_76+73del	NP_000229.1:n.76+12_76+73del
NM_172056.2:c.76+12_76+73del , LRG_288t2:c.76+12_76+73del	NP_742053.1:n.76+12_76+73del
XM_011516186.1:c.76+12_76+73del	XP_011514488.1:n.76+12_76+73del
XM_011516186.3:c.76+12_76+73del	XP_011514488.1:n.76+12_76+73del
NM_000238.4:c.76+12_76+73del MANE Select	NP_000229.1:n.76+12_76+73del