Canonical Allele Identifier: CA2652924237

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460869-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460869_43460870insTTT , CM000682.2:g.43460869_43460870insTTT	GRCh38
NC_000020.10:g.42089509_42089510insTTT , CM000682.1:g.42089509_42089510insTTT	GRCh37
NC_000020.9:g.41522923_41522924insTTT	NCBI36
NG_029906.1:g.8006_8007insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.841_842insTTT MANE Select	ENSP00000244020.3:p.Pro281delinsLeuSer
ENST00000657241.1:c.654+271_654+272insTTT
ENST00000662078.1:c.674+271_674+272insTTT	ENSP00000499666.1:n.674+271_674+272insTTT
ENST00000668808.1:c.824+17_824+18insTTT	ENSP00000499517.1:n.824+17_824+18insTTT
ENST00000670741.1:c.674+271_674+272insTTT	ENSP00000499492.1:n.674+271_674+272insTTT
ENST00000671022.1:n.931_932insTTT
ENST00000244020.4:c.841_842insTTT	ENSP00000244020.3:p.Pro281delinsLeuSer
ENST00000483871.6:c.*701_*702insTTT	ENSP00000433544.1:n.*701_*702insTTT
NM_006275.5:c.841_842insTTT	NP_006266.2:p.Pro281delinsLeuSer
NR_034009.1:n.1279_1280insTTT
XR_936608.1:n.1600_1601insTTT
XR_936608.2:n.1600_1601insTTT
NM_006275.6:c.841_842insTTT MANE Select	NP_006266.2:p.Pro281delinsLeuSer
NR_034009.2:n.1247_1248insTTT