Canonical Allele Identifier: CA2517670977
Gene: RSPH4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116617115_116617116insTC , CM000668.2:g.116617115_116617116insTC GRCh38
NC_000006.11:g.116938278_116938279insTC , CM000668.1:g.116938278_116938279insTC GRCh37
NC_000006.10:g.117044971_117044972insTC NCBI36
NG_012934.1:g.5637_5638insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.492_493insTC MANE Select ENSP00000229554.5:p.Asp165SerfsTer3
ENST00000229554.9:c.492_493insTC ENSP00000229554.5:p.Asp165SerfsTer3
ENST00000368580.4:c.492_493insTC ENSP00000357569.4:p.Asp165SerfsTer3
ENST00000368581.8:c.492_493insTC ENSP00000357570.4:p.Asp165SerfsTer3
NM_001010892.2:c.492_493insTC NP_001010892.1:p.Asp165SerfsTer3
NM_001161664.1:c.492_493insTC NP_001155136.1:p.Asp165SerfsTer3
XM_006715469.2:c.492_493insTC XP_006715532.1:p.Asp165SerfsTer3
XM_011535791.1:c.492_493insTC XP_011534093.1:p.Asp165SerfsTer3
XM_011535792.1:c.492_493insTC XP_011534094.1:p.Asp165SerfsTer3
XR_942416.1:n.3143_3144insTC
XM_017010826.1:c.492_493insTC XP_016866315.1:p.Asp165SerfsTer3
NM_001010892.3:c.492_493insTC MANE Select NP_001010892.1:p.Asp165SerfsTer3
NM_001161664.2:c.492_493insTC NP_001155136.1:p.Asp165SerfsTer3