Canonical Allele Identifier: CA2685602476

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948407-T-TGCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948407_150948408insGCCCCCC , CM000669.2:g.150948407_150948408insGCCCCCC	GRCh38
NC_000007.13:g.150645495_150645496insGCCCCCC , CM000669.1:g.150645495_150645496insGCCCCCC	GRCh37
NC_000007.12:g.150276428_150276429insGCCCCCC	NCBI36
NG_008916.1:g.34519_34520insGGGGGGC , LRG_288:g.34519_34520insGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+36_3525+37insGGGGGGC
ENST00000262186.10:c.2692+36_2692+37insGGGGGGC MANE Select	ENSP00000262186.5:n.2692+36_2692+37insGGGGGGC
ENST00000330883.9:c.1672+36_1672+37insGGGGGGC	ENSP00000328531.4:n.1672+36_1672+37insGGGGGGC
ENST00000262186.9:c.2692+36_2692+37insGGGGGGC	ENSP00000262186.5:n.2692+36_2692+37insGGGGGGC
ENST00000330883.8:c.1672+36_1672+37insGGGGGGC	ENSP00000328531.4:n.1672+36_1672+37insGGGGGGC
NM_000238.3:c.2692+36_2692+37insGGGGGGC , LRG_288t1:c.2692+36_2692+37insGGGGGGC	NP_000229.1:n.2692+36_2692+37insGGGGGGC
NM_172057.2:c.1672+36_1672+37insGGGGGGC , LRG_288t3:c.1672+36_1672+37insGGGGGGC	NP_742054.1:n.1672+36_1672+37insGGGGGGC
XM_011516185.1:c.2392+36_2392+37insGGGGGGC	XP_011514487.1:n.2392+36_2392+37insGGGGGGC
XM_011516186.1:c.2692+36_2692+37insGGGGGGC	XP_011514488.1:n.2692+36_2692+37insGGGGGGC
XM_011516185.2:c.2392+36_2392+37insGGGGGGC	XP_011514487.1:n.2392+36_2392+37insGGGGGGC
XM_011516186.3:c.2692+36_2692+37insGGGGGGC	XP_011514488.1:n.2692+36_2692+37insGGGGGGC
XM_017012195.1:c.2542+36_2542+37insGGGGGGC	XP_016867684.1:n.2542+36_2542+37insGGGGGGC
XM_017012196.1:c.2515+36_2515+37insGGGGGGC	XP_016867685.1:n.2515+36_2515+37insGGGGGGC
NM_000238.4:c.2692+36_2692+37insGGGGGGC MANE Select	NP_000229.1:n.2692+36_2692+37insGGGGGGC
NM_172057.3:c.1672+36_1672+37insGGGGGGC	NP_742054.1:n.1672+36_1672+37insGGGGGGC