Canonical Allele Identifier: CA2580613162

Gene: SRSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58006347_58006348del , CM000679.2:g.58006347_58006348del	GRCh38
NC_000017.10:g.56083708_56083709del , CM000679.1:g.56083708_56083709del	GRCh37
NC_000017.9:g.53438707_53438708del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006924.5:c.377_378del MANE Select	NP_008855.1:p.Ser126TrpfsTer17
ENST00000258962.5:c.377_378del MANE Select	ENSP00000258962.4:p.Ser126TrpfsTer17
NM_001078166.1:c.377_378del	NP_001071634.1:p.Ser126TrpfsTer17
NM_001078166.2:c.377_378del	NP_001071634.1:p.Ser126TrpfsTer17
NM_006924.4:c.377_378del	NP_008855.1:p.Ser126TrpfsTer17
NR_034041.1:n.586_587del
NR_034041.2:n.486_487del
ENST00000258962.4:c.377_378del	ENSP00000258962.4:p.Ser126TrpfsTer17
ENST00000578430.1:n.586_587del
ENST00000578794.2:c.377_378del	ENSP00000463235.2:p.Ser126TrpfsTer17
ENST00000581979.5:c.377_378del	ENSP00000463223.1:p.Ser126TrpfsTer17
ENST00000582730.6:c.377_378del	ENSP00000462215.1:p.Ser126TrpfsTer17
ENST00000583741.1:c.*216_*217del	ENSP00000463917.1:n.*216_*217del
ENST00000584668.5:c.61_62del
ENST00000584773.5:c.377_378del	ENSP00000463042.1:p.Ser126TrpfsTer17
ENST00000585096.1:c.212+165_212+166del	ENSP00000462687.1:n.212+165_212+166del
XM_006722012.2:c.377_378del	XP_006722075.1:p.Ser126TrpfsTer17
XR_429911.2:n.513_514del
XR_429911.3:n.513_514del
XR_429912.2:n.513_514del