Canonical Allele Identifier: CA2816444877
Gene: SRSF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.43460620_43460622del , CM000682.2:g.43460620_43460622del GRCh38
NC_000020.10:g.42089260_42089262del , CM000682.1:g.42089260_42089262del GRCh37
NC_000020.9:g.41522674_41522676del NCBI36
NG_029906.1:g.7757_7759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244020.5:c.674+22_674+24del MANE Select ENSP00000244020.3:n.674+22_674+24del
ENST00000657241.1:c.654+22_654+24del
ENST00000662078.1:c.674+22_674+24del ENSP00000499666.1:n.674+22_674+24del
ENST00000668808.1:c.674+22_674+24del ENSP00000499517.1:n.674+22_674+24del
ENST00000670741.1:c.674+22_674+24del ENSP00000499492.1:n.674+22_674+24del
ENST00000671022.1:n.764+22_764+24del
ENST00000244020.4:c.674+22_674+24del ENSP00000244020.3:n.674+22_674+24del
ENST00000483871.6:c.*534+22_*534+24del ENSP00000433544.1:n.*534+22_*534+24del
NM_006275.5:c.674+22_674+24del NP_006266.2:n.674+22_674+24del
NR_034009.1:n.1112+22_1112+24del
XR_936608.1:n.1433+22_1433+24del
XR_936608.2:n.1433+22_1433+24del
NM_006275.6:c.674+22_674+24del MANE Select NP_006266.2:n.674+22_674+24del
NR_034009.2:n.1080+22_1080+24del