Canonical Allele Identifier: CA1979517579

Gene: CATSPER1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025344_66025350delinsTACGAGA , CM000673.2:g.66025344_66025350delinsTACGAGA	GRCh38
NC_000011.9:g.65792815_65792821delinsTACGAGA , CM000673.1:g.65792815_65792821delinsTACGAGA	GRCh37
NC_000011.8:g.65549391_65549397delinsTACGAGA	NCBI36
NG_016285.1:g.6168_6174delinsTCTCGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1030_1036delinsTCTCGTA MANE Select	ENSP00000309052.5:p.Ser344=
ENST00000312106.5:c.1030_1036delinsTCTCGTA	ENSP00000309052.5:p.Ser344=
NM_053054.3:c.1030_1036delinsTCTCGTA	NP_444282.3:p.Ser344=
XR_949785.1:n.1170_1176delinsTCTCGTA
XR_949786.1:n.1170_1176delinsTCTCGTA
XR_949787.1:n.1170_1176delinsTCTCGTA
XR_002957121.1:n.1168_1174delinsTCTCGTA
XR_002957122.1:n.1169_1175delinsTCTCGTA
XR_949785.2:n.1168_1174delinsTCTCGTA
XR_949787.2:n.1169_1175delinsTCTCGTA
NM_053054.4:c.1030_1036delinsTCTCGTA MANE Select	NP_444282.3:p.Ser344=