Canonical Allele Identifier: CA2580094277

Gene: SRSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58005576dup , CM000679.2:g.58005576dup	GRCh38
NC_000017.10:g.56082937dup , CM000679.1:g.56082937dup	GRCh37
NC_000017.9:g.53437936dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006924.5:c.579dup MANE Select	NP_008855.1:p.Val194SerfsTer2
ENST00000258962.5:c.579dup MANE Select	ENSP00000258962.4:p.Val194SerfsTer2
NM_001078166.1:c.*173dup	NP_001071634.1:n.*173dup
NM_001078166.2:c.*173dup	NP_001071634.1:n.*173dup
NM_006924.4:c.579dup	NP_008855.1:p.Val194SerfsTer2
NR_034041.1:n.988dup
NR_034041.2:n.888dup
ENST00000258962.4:c.579dup	ENSP00000258962.4:p.Val194SerfsTer2
ENST00000578794.2:c.*173dup	ENSP00000463235.2:n.*173dup
ENST00000581979.5:c.*173dup	ENSP00000463223.1:n.*173dup
ENST00000582730.6:c.*173dup	ENSP00000462215.1:n.*173dup
ENST00000583741.1:c.*418dup	ENSP00000463917.1:n.*418dup
ENST00000584668.5:c.263dup
ENST00000584773.5:c.579dup	ENSP00000463042.1:p.Val194SerfsTer2
ENST00000585096.1:c.213-533dup	ENSP00000462687.1:n.213-533dup
XM_006722012.2:c.552+227dup	XP_006722075.1:n.552+227dup
XR_429911.2:n.715dup
XR_429911.3:n.715dup
XR_429912.2:n.688+227dup