Canonical Allele Identifier: CA2614432273
Gene: CATSPER1 HGNC NCBI

Linked Data

gnomAD v4: 11-66025448-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025450del , CM000673.2:g.66025450del GRCh38
NC_000011.9:g.65792921del , CM000673.1:g.65792921del GRCh37
NC_000011.8:g.65549497del NCBI36
NG_016285.1:g.6069del

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.931del MANE Select ENSP00000309052.5:p.Ser311ProfsTer24
ENST00000312106.5:c.931del ENSP00000309052.5:p.Ser311ProfsTer24
NM_053054.3:c.931del NP_444282.3:p.Ser311ProfsTer24
XR_949785.1:n.1071del
XR_949786.1:n.1071del
XR_949787.1:n.1071del
XR_002957121.1:n.1069del
XR_002957122.1:n.1070del
XR_949785.2:n.1069del
XR_949787.2:n.1070del
NM_053054.4:c.931del MANE Select NP_444282.3:p.Ser311ProfsTer24
Search 100 bp 5'
Search 100 bp 3'