Canonical Allele Identifier: CA2574882714

Gene: CATSPER1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025345dup , CM000673.2:g.66025345dup	GRCh38
NC_000011.9:g.65792816dup , CM000673.1:g.65792816dup	GRCh37
NC_000011.8:g.65549392dup	NCBI36
NG_016285.1:g.6173dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1035dup MANE Select	ENSP00000309052.5:p.Thr346TyrfsTer?
ENST00000312106.5:c.1035dup	ENSP00000309052.5:p.Thr346TyrfsTer?
NM_053054.3:c.1035dup	NP_444282.3:p.Thr346TyrfsTer?
XR_949785.1:n.1175dup
XR_949786.1:n.1175dup
XR_949787.1:n.1175dup
XR_002957121.1:n.1173dup
XR_002957122.1:n.1174dup
XR_949785.2:n.1173dup
XR_949787.2:n.1174dup
NM_053054.4:c.1035dup MANE Select	NP_444282.3:p.Thr346TyrfsTer?