Canonical Allele Identifier: CA2685606429

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977752-GCCCGGGCACGCCCCCCCATCCACACTCGGAAGAGCTCGGCCCGCCCCCAGAGCCCCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977757_150977815del , CM000669.2:g.150977757_150977815del	GRCh38
NC_000007.13:g.150674845_150674903del , CM000669.1:g.150674845_150674903del	GRCh37
NC_000007.12:g.150305778_150305836del	NCBI36
NG_008916.1:g.5116_5174del , LRG_288:g.5116_5174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+27_76+85del MANE Select	ENSP00000262186.5:n.76+27_76+85del
ENST00000262186.9:c.76+27_76+85del	ENSP00000262186.5:n.76+27_76+85del
ENST00000430723.4:c.-102+27_-102+85del	ENSP00000387657.4:n.-102+27_-102+85del
ENST00000532957.5:n.299+27_299+85del
NM_000238.3:c.76+27_76+85del , LRG_288t1:c.76+27_76+85del	NP_000229.1:n.76+27_76+85del
NM_172056.2:c.76+27_76+85del , LRG_288t2:c.76+27_76+85del	NP_742053.1:n.76+27_76+85del
XM_011516186.1:c.76+27_76+85del	XP_011514488.1:n.76+27_76+85del
XM_011516186.3:c.76+27_76+85del	XP_011514488.1:n.76+27_76+85del
NM_000238.4:c.76+27_76+85del MANE Select	NP_000229.1:n.76+27_76+85del