Canonical Allele Identifier: CA1752431135
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948419_150948426delinsCCCTTCCT , CM000669.2:g.150948419_150948426delinsCCCTTCCT GRCh38
NC_000007.13:g.150645507_150645514delinsCCCTTCCT , CM000669.1:g.150645507_150645514delinsCCCTTCCT GRCh37
NC_000007.12:g.150276440_150276447delinsCCCTTCCT NCBI36
NG_008916.1:g.34501_34508delinsAGGAAGGG , LRG_288:g.34501_34508delinsAGGAAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+18_3525+25delinsAGGAAGGG
ENST00000262186.10:c.2692+18_2692+25delinsAGGAAGGG MANE Select ENSP00000262186.5:n.2692+18_2692+25delinsAGGAAGGG
ENST00000330883.9:c.1672+18_1672+25delinsAGGAAGGG ENSP00000328531.4:n.1672+18_1672+25delinsAGGAAGGG
ENST00000262186.9:c.2692+18_2692+25delinsAGGAAGGG ENSP00000262186.5:n.2692+18_2692+25delinsAGGAAGGG
ENST00000330883.8:c.1672+18_1672+25delinsAGGAAGGG ENSP00000328531.4:n.1672+18_1672+25delinsAGGAAGGG
NM_000238.3:c.2692+18_2692+25delinsAGGAAGGG , LRG_288t1:c.2692+18_2692+25delinsAGGAAGGG NP_000229.1:n.2692+18_2692+25delinsAGGAAGGG
NM_172057.2:c.1672+18_1672+25delinsAGGAAGGG , LRG_288t3:c.1672+18_1672+25delinsAGGAAGGG NP_742054.1:n.1672+18_1672+25delinsAGGAAGGG
XM_011516185.1:c.2392+18_2392+25delinsAGGAAGGG XP_011514487.1:n.2392+18_2392+25delinsAGGAAGGG
XM_011516186.1:c.2692+18_2692+25delinsAGGAAGGG XP_011514488.1:n.2692+18_2692+25delinsAGGAAGGG
XM_011516185.2:c.2392+18_2392+25delinsAGGAAGGG XP_011514487.1:n.2392+18_2392+25delinsAGGAAGGG
XM_011516186.3:c.2692+18_2692+25delinsAGGAAGGG XP_011514488.1:n.2692+18_2692+25delinsAGGAAGGG
XM_017012195.1:c.2542+18_2542+25delinsAGGAAGGG XP_016867684.1:n.2542+18_2542+25delinsAGGAAGGG
XM_017012196.1:c.2515+18_2515+25delinsAGGAAGGG XP_016867685.1:n.2515+18_2515+25delinsAGGAAGGG
NM_000238.4:c.2692+18_2692+25delinsAGGAAGGG MANE Select NP_000229.1:n.2692+18_2692+25delinsAGGAAGGG
NM_172057.3:c.1672+18_1672+25delinsAGGAAGGG NP_742054.1:n.1672+18_1672+25delinsAGGAAGGG