Canonical Allele Identifier: CA9865234

Gene: SRSF6

Linked Data

• dbSNP Id: rs765722036
• ExAC: 20:42089431 C / CG
• gnomAD v2: 20-42089431-C-CG
• gnomAD v4: 20-43460791-C-CG
• MyVariant Identifiers: chr20:g.42089431_42089432insG (hg19) ; chr20:g.43460791_43460792insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460795dup , CM000682.2:g.43460795dup	GRCh38
NC_000020.10:g.42089435dup , CM000682.1:g.42089435dup	GRCh37
NC_000020.9:g.41522849dup	NCBI36
NG_029906.1:g.7932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.767dup MANE Select	ENSP00000244020.3:p.Ser257LeufsTer10
ENST00000657241.1:c.654+197dup
ENST00000662078.1:c.674+197dup	ENSP00000499666.1:n.674+197dup
ENST00000668808.1:c.767dup	ENSP00000499517.1:p.Ser257LeufsTer10
ENST00000670741.1:c.674+197dup	ENSP00000499492.1:n.674+197dup
ENST00000671022.1:n.857dup
ENST00000244020.4:c.767dup	ENSP00000244020.3:p.Ser257LeufsTer10
ENST00000483871.6:c.*627dup	ENSP00000433544.1:n.*627dup
NM_006275.5:c.767dup	NP_006266.2:p.Ser257LeufsTer10
NR_034009.1:n.1205dup
XR_936608.1:n.1526dup
XR_936608.2:n.1526dup
NM_006275.6:c.767dup MANE Select	NP_006266.2:p.Ser257LeufsTer10
NR_034009.2:n.1173dup