Canonical Allele Identifier: CA1752431060
Gene: KCNH2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948396_150948423delinsGCCTCACCTTGTCCCCGCCCTCCCCCTT , CM000669.2:g.150948396_150948423delinsGCCTCACCTTGTCCCCGCCCTCCCCCTT GRCh38
NC_000007.13:g.150645484_150645511delinsGCCTCACCTTGTCCCCGCCCTCCCCCTT , CM000669.1:g.150645484_150645511delinsGCCTCACCTTGTCCCCGCCCTCCCCCTT GRCh37
NC_000007.12:g.150276417_150276444delinsGCCTCACCTTGTCCCCGCCCTCCCCCTT NCBI36
NG_008916.1:g.34504_34531delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC , LRG_288:g.34504_34531delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+21_3525+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC
ENST00000262186.10:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC MANE Select ENSP00000262186.5:n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAA...
ENST00000330883.9:c.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC ENSP00000328531.4:n.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAA...
ENST00000262186.9:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC ENSP00000262186.5:n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAA...
ENST00000330883.8:c.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC ENSP00000328531.4:n.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAA...
NM_000238.3:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC , LRG_288t1:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC NP_000229.1:n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAG...
NM_172057.2:c.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC , LRG_288t3:c.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC NP_742054.1:n.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAG...
XM_011516185.1:c.2392+21_2392+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC XP_011514487.1:n.2392+21_2392+48delinsAAGGGGGAGGGCGGGGACAAGGT...
XM_011516186.1:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC XP_011514488.1:n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGT...
XM_011516185.2:c.2392+21_2392+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC XP_011514487.1:n.2392+21_2392+48delinsAAGGGGGAGGGCGGGGACAAGGT...
XM_011516186.3:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC XP_011514488.1:n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGT...
XM_017012195.1:c.2542+21_2542+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC XP_016867684.1:n.2542+21_2542+48delinsAAGGGGGAGGGCGGGGACAAGGT...
XM_017012196.1:c.2515+21_2515+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC XP_016867685.1:n.2515+21_2515+48delinsAAGGGGGAGGGCGGGGACAAGGT...
NM_000238.4:c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC MANE Select NP_000229.1:n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAG...
NM_172057.3:c.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC NP_742054.1:n.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAG...
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