Canonical Allele Identifier: CA2685602514

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948412-GCCCTCCCCCTTCCTCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948416_150948434del , CM000669.2:g.150948416_150948434del	GRCh38
NC_000007.13:g.150645504_150645522del , CM000669.1:g.150645504_150645522del	GRCh37
NC_000007.12:g.150276437_150276455del	NCBI36
NG_008916.1:g.34496_34514del , LRG_288:g.34496_34514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+13_3525+31del
ENST00000262186.10:c.2692+13_2692+31del MANE Select	ENSP00000262186.5:n.2692+13_2692+31del
ENST00000330883.9:c.1672+13_1672+31del	ENSP00000328531.4:n.1672+13_1672+31del
ENST00000262186.9:c.2692+13_2692+31del	ENSP00000262186.5:n.2692+13_2692+31del
ENST00000330883.8:c.1672+13_1672+31del	ENSP00000328531.4:n.1672+13_1672+31del
NM_000238.3:c.2692+13_2692+31del , LRG_288t1:c.2692+13_2692+31del	NP_000229.1:n.2692+13_2692+31del
NM_172057.2:c.1672+13_1672+31del , LRG_288t3:c.1672+13_1672+31del	NP_742054.1:n.1672+13_1672+31del
XM_011516185.1:c.2392+13_2392+31del	XP_011514487.1:n.2392+13_2392+31del
XM_011516186.1:c.2692+13_2692+31del	XP_011514488.1:n.2692+13_2692+31del
XM_011516185.2:c.2392+13_2392+31del	XP_011514487.1:n.2392+13_2392+31del
XM_011516186.3:c.2692+13_2692+31del	XP_011514488.1:n.2692+13_2692+31del
XM_017012195.1:c.2542+13_2542+31del	XP_016867684.1:n.2542+13_2542+31del
XM_017012196.1:c.2515+13_2515+31del	XP_016867685.1:n.2515+13_2515+31del
NM_000238.4:c.2692+13_2692+31del MANE Select	NP_000229.1:n.2692+13_2692+31del
NM_172057.3:c.1672+13_1672+31del	NP_742054.1:n.1672+13_1672+31del