Canonical Allele Identifier: CA2652924246

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460888-G-GTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460890_43460892dup , CM000682.2:g.43460890_43460892dup	GRCh38
NC_000020.10:g.42089530_42089532dup , CM000682.1:g.42089530_42089532dup	GRCh37
NC_000020.9:g.41522944_41522946dup	NCBI36
NG_029906.1:g.8027_8029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.862_864dup MANE Select	ENSP00000244020.3:p.Asp288_Ile289insAsp
ENST00000657241.1:c.654+292_654+294dup
ENST00000662078.1:c.674+292_674+294dup	ENSP00000499666.1:n.674+292_674+294dup
ENST00000668808.1:c.824+38_824+40dup	ENSP00000499517.1:n.824+38_824+40dup
ENST00000670741.1:c.674+292_674+294dup	ENSP00000499492.1:n.674+292_674+294dup
ENST00000671022.1:n.952_954dup
ENST00000244020.4:c.862_864dup	ENSP00000244020.3:p.Asp288_Ile289insAsp
ENST00000483871.6:c.*722_*724dup	ENSP00000433544.1:n.*722_*724dup
NM_006275.5:c.862_864dup	NP_006266.2:p.Asp288_Ile289insAsp
NR_034009.1:n.1300_1302dup
XR_936608.2:n.1621_1623dup
NM_006275.6:c.862_864dup MANE Select	NP_006266.2:p.Asp288_Ile289insAsp
NR_034009.2:n.1268_1270dup