Canonical Allele Identifier: CA9865198

Gene: SRSF6

Linked Data

• dbSNP Id: rs776947318
• ExAC: 20:42089262 CTG / C
• gnomAD v2: 20-42089262-CTG-C
• gnomAD v4: 20-43460622-CTG-C
• MyVariant Identifiers: chr20:g.42089263_42089264del (hg19) ; chr20:g.43460623_43460624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460625_43460626del , CM000682.2:g.43460625_43460626del	GRCh38
NC_000020.10:g.42089265_42089266del , CM000682.1:g.42089265_42089266del	GRCh37
NC_000020.9:g.41522679_41522680del	NCBI36
NG_029906.1:g.7762_7763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.674+27_674+28del MANE Select	ENSP00000244020.3:n.674+27_674+28del
ENST00000657241.1:c.654+27_654+28del
ENST00000662078.1:c.674+27_674+28del	ENSP00000499666.1:n.674+27_674+28del
ENST00000668808.1:c.674+27_674+28del	ENSP00000499517.1:n.674+27_674+28del
ENST00000670741.1:c.674+27_674+28del	ENSP00000499492.1:n.674+27_674+28del
ENST00000671022.1:n.764+27_764+28del
ENST00000244020.4:c.674+27_674+28del	ENSP00000244020.3:n.674+27_674+28del
ENST00000483871.6:c.*534+27_*534+28del	ENSP00000433544.1:n.*534+27_*534+28del
NM_006275.5:c.674+27_674+28del	NP_006266.2:n.674+27_674+28del
NR_034009.1:n.1112+27_1112+28del
XR_936608.1:n.1433+27_1433+28del
XR_936608.2:n.1433+27_1433+28del
NM_006275.6:c.674+27_674+28del MANE Select	NP_006266.2:n.674+27_674+28del
NR_034009.2:n.1080+27_1080+28del