Canonical Allele Identifier: CA2685602574

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948419-CCCTTCCTCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948422_150948433del , CM000669.2:g.150948422_150948433del	GRCh38
NC_000007.13:g.150645510_150645521del , CM000669.1:g.150645510_150645521del	GRCh37
NC_000007.12:g.150276443_150276454del	NCBI36
NG_008916.1:g.34496_34507del , LRG_288:g.34496_34507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+13_3525+24del
ENST00000262186.10:c.2692+13_2692+24del MANE Select	ENSP00000262186.5:n.2692+13_2692+24del
ENST00000330883.9:c.1672+13_1672+24del	ENSP00000328531.4:n.1672+13_1672+24del
ENST00000262186.9:c.2692+13_2692+24del	ENSP00000262186.5:n.2692+13_2692+24del
ENST00000330883.8:c.1672+13_1672+24del	ENSP00000328531.4:n.1672+13_1672+24del
NM_000238.3:c.2692+13_2692+24del , LRG_288t1:c.2692+13_2692+24del	NP_000229.1:n.2692+13_2692+24del
NM_172057.2:c.1672+13_1672+24del , LRG_288t3:c.1672+13_1672+24del	NP_742054.1:n.1672+13_1672+24del
XM_011516185.1:c.2392+13_2392+24del	XP_011514487.1:n.2392+13_2392+24del
XM_011516186.1:c.2692+13_2692+24del	XP_011514488.1:n.2692+13_2692+24del
XM_011516185.2:c.2392+13_2392+24del	XP_011514487.1:n.2392+13_2392+24del
XM_011516186.3:c.2692+13_2692+24del	XP_011514488.1:n.2692+13_2692+24del
XM_017012195.1:c.2542+13_2542+24del	XP_016867684.1:n.2542+13_2542+24del
XM_017012196.1:c.2515+13_2515+24del	XP_016867685.1:n.2515+13_2515+24del
NM_000238.4:c.2692+13_2692+24del MANE Select	NP_000229.1:n.2692+13_2692+24del
NM_172057.3:c.1672+13_1672+24del	NP_742054.1:n.1672+13_1672+24del