Canonical Allele Identifier: CA2685606728

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977774-ACACTCGGAAGAGCTCGGCCCGCCCCCAGAGCCCCCTCCCCGCTCAGCCCCCTCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977780_150977835del , CM000669.2:g.150977780_150977835del	GRCh38
NC_000007.13:g.150674868_150674923del , CM000669.1:g.150674868_150674923del	GRCh37
NC_000007.12:g.150305801_150305856del	NCBI36
NG_008916.1:g.5097_5152del , LRG_288:g.5097_5152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+8_76+63del MANE Select	ENSP00000262186.5:n.76+8_76+63del
ENST00000262186.9:c.76+8_76+63del	ENSP00000262186.5:n.76+8_76+63del
ENST00000430723.4:c.-102+8_-102+63del	ENSP00000387657.4:n.-102+8_-102+63del
ENST00000532957.5:n.299+8_299+63del
NM_000238.3:c.76+8_76+63del , LRG_288t1:c.76+8_76+63del	NP_000229.1:n.76+8_76+63del
NM_172056.2:c.76+8_76+63del , LRG_288t2:c.76+8_76+63del	NP_742053.1:n.76+8_76+63del
XM_011516186.1:c.76+8_76+63del	XP_011514488.1:n.76+8_76+63del
XM_011516186.3:c.76+8_76+63del	XP_011514488.1:n.76+8_76+63del
NM_000238.4:c.76+8_76+63del MANE Select	NP_000229.1:n.76+8_76+63del