Canonical Allele Identifier: CA645587610
Gene: CATSPER1 HGNC NCBI

Linked Data

COSMIC: COSM4567942
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025447_66025448delinsAA , CM000673.2:g.66025447_66025448delinsAA GRCh38
NC_000011.9:g.65792918_65792919delinsAA , CM000673.1:g.65792918_65792919delinsAA GRCh37
NC_000011.8:g.65549494_65549495delinsAA NCBI36
NG_016285.1:g.6070_6071delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.932_933delinsTT MANE Select ENSP00000309052.5:p.Ser311Phe
ENST00000312106.5:c.932_933delinsTT ENSP00000309052.5:p.Ser311Phe
NM_053054.3:c.932_933delinsTT NP_444282.3:p.Ser311Phe
XR_949785.1:n.1072_1073delinsTT
XR_949786.1:n.1072_1073delinsTT
XR_949787.1:n.1072_1073delinsTT
XR_002957121.1:n.1070_1071delinsTT
XR_002957122.1:n.1071_1072delinsTT
XR_949785.2:n.1070_1071delinsTT
XR_949787.2:n.1071_1072delinsTT
NM_053054.4:c.932_933delinsTT MANE Select NP_444282.3:p.Ser311Phe
Search 100 bp 5'
Search 100 bp 3'