Canonical Allele Identifier: CA9865190

Gene: SRSF6

Linked Data

• dbSNP Id: rs771348920
• ExAC: 20:42089247 CGTT / C
• gnomAD v2: 20-42089247-CGTT-C
• gnomAD v3: 20-43460607-CGTT-C
• gnomAD v4: 20-43460607-CGTT-C
• MyVariant Identifiers: chr20:g.42089248_42089250del (hg19) ; chr20:g.43460609_43460611del (hg38) ; chr20:g.43460608_43460610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460610_43460612del , CM000682.2:g.43460610_43460612del	GRCh38
NC_000020.10:g.42089250_42089252del , CM000682.1:g.42089250_42089252del	GRCh37
NC_000020.9:g.41522664_41522666del	NCBI36
NG_029906.1:g.7747_7749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.674+12_674+14del MANE Select	ENSP00000244020.3:n.674+12_674+14del
ENST00000657241.1:c.654+12_654+14del
ENST00000662078.1:c.674+12_674+14del	ENSP00000499666.1:n.674+12_674+14del
ENST00000668808.1:c.674+12_674+14del	ENSP00000499517.1:n.674+12_674+14del
ENST00000670741.1:c.674+12_674+14del	ENSP00000499492.1:n.674+12_674+14del
ENST00000671022.1:n.764+12_764+14del
ENST00000244020.4:c.674+12_674+14del	ENSP00000244020.3:n.674+12_674+14del
ENST00000483871.6:c.*534+12_*534+14del	ENSP00000433544.1:n.*534+12_*534+14del
NM_006275.5:c.674+12_674+14del	NP_006266.2:n.674+12_674+14del
NR_034009.1:n.1112+12_1112+14del
XR_936608.1:n.1433+12_1433+14del
XR_936608.2:n.1433+12_1433+14del
NM_006275.6:c.674+12_674+14del MANE Select	NP_006266.2:n.674+12_674+14del
NR_034009.2:n.1080+12_1080+14del