Canonical Allele Identifier: CA2685602411

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948375-CACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948376_150948431del , CM000669.2:g.150948376_150948431del	GRCh38
NC_000007.13:g.150645464_150645519del , CM000669.1:g.150645464_150645519del	GRCh37
NC_000007.12:g.150276397_150276452del	NCBI36
NG_008916.1:g.34496_34551del , LRG_288:g.34496_34551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+13_3525+68del
ENST00000262186.10:c.2692+13_2692+68del MANE Select	ENSP00000262186.5:n.2692+13_2692+68del
ENST00000330883.9:c.1672+13_1672+68del	ENSP00000328531.4:n.1672+13_1672+68del
ENST00000262186.9:c.2692+13_2692+68del	ENSP00000262186.5:n.2692+13_2692+68del
ENST00000330883.8:c.1672+13_1672+68del	ENSP00000328531.4:n.1672+13_1672+68del
NM_000238.3:c.2692+13_2692+68del , LRG_288t1:c.2692+13_2692+68del	NP_000229.1:n.2692+13_2692+68del
NM_172057.2:c.1672+13_1672+68del , LRG_288t3:c.1672+13_1672+68del	NP_742054.1:n.1672+13_1672+68del
XM_011516185.1:c.2392+13_2392+68del	XP_011514487.1:n.2392+13_2392+68del
XM_011516186.1:c.2692+13_2692+68del	XP_011514488.1:n.2692+13_2692+68del
XM_011516185.2:c.2392+13_2392+68del	XP_011514487.1:n.2392+13_2392+68del
XM_011516186.3:c.2692+13_2692+68del	XP_011514488.1:n.2692+13_2692+68del
XM_017012195.1:c.2542+13_2542+68del	XP_016867684.1:n.2542+13_2542+68del
XM_017012196.1:c.2515+13_2515+68del	XP_016867685.1:n.2515+13_2515+68del
NM_000238.4:c.2692+13_2692+68del MANE Select	NP_000229.1:n.2692+13_2692+68del
NM_172057.3:c.1672+13_1672+68del	NP_742054.1:n.1672+13_1672+68del