Canonical Allele Identifier: CA2685602695

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948437-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948439_150948441del , CM000669.2:g.150948439_150948441del	GRCh38
NC_000007.13:g.150645527_150645529del , CM000669.1:g.150645527_150645529del	GRCh37
NC_000007.12:g.150276460_150276462del	NCBI36
NG_008916.1:g.34487_34489del , LRG_288:g.34487_34489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+4_3525+6del
ENST00000262186.10:c.2692+4_2692+6del MANE Select	ENSP00000262186.5:n.2692+4_2692+6del
ENST00000330883.9:c.1672+4_1672+6del	ENSP00000328531.4:n.1672+4_1672+6del
ENST00000262186.9:c.2692+4_2692+6del	ENSP00000262186.5:n.2692+4_2692+6del
ENST00000330883.8:c.1672+4_1672+6del	ENSP00000328531.4:n.1672+4_1672+6del
NM_000238.3:c.2692+4_2692+6del , LRG_288t1:c.2692+4_2692+6del	NP_000229.1:n.2692+4_2692+6del
NM_172057.2:c.1672+4_1672+6del , LRG_288t3:c.1672+4_1672+6del	NP_742054.1:n.1672+4_1672+6del
XM_011516185.1:c.2392+4_2392+6del	XP_011514487.1:n.2392+4_2392+6del
XM_011516186.1:c.2692+4_2692+6del	XP_011514488.1:n.2692+4_2692+6del
XM_011516185.2:c.2392+4_2392+6del	XP_011514487.1:n.2392+4_2392+6del
XM_011516186.3:c.2692+4_2692+6del	XP_011514488.1:n.2692+4_2692+6del
XM_017012195.1:c.2542+4_2542+6del	XP_016867684.1:n.2542+4_2542+6del
XM_017012196.1:c.2515+4_2515+6del	XP_016867685.1:n.2515+4_2515+6del
NM_000238.4:c.2692+4_2692+6del MANE Select	NP_000229.1:n.2692+4_2692+6del
NM_172057.3:c.1672+4_1672+6del	NP_742054.1:n.1672+4_1672+6del