Canonical Allele Identifier: CA9865215

Gene: SRSF6

Linked Data

• dbSNP Id: rs760005437
• ExAC: 20:42089328 TCTTTC / T
• gnomAD v2: 20-42089328-TCTTTC-T
• gnomAD v3: 20-43460688-TCTTTC-T
• gnomAD v4: 20-43460688-TCTTTC-T
• MyVariant Identifiers: chr20:g.42089329_42089333del (hg19) ; chr20:g.43460690_43460694del (hg38) ; chr20:g.43460689_43460693del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460692_43460696del , CM000682.2:g.43460692_43460696del	GRCh38
NC_000020.10:g.42089332_42089336del , CM000682.1:g.42089332_42089336del	GRCh37
NC_000020.9:g.41522746_41522750del	NCBI36
NG_029906.1:g.7829_7833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.675-11_675-7del MANE Select	ENSP00000244020.3:n.675-11_675-7del
ENST00000657241.1:c.654+94_654+98del
ENST00000662078.1:c.674+94_674+98del	ENSP00000499666.1:n.674+94_674+98del
ENST00000668808.1:c.675-11_675-7del	ENSP00000499517.1:n.675-11_675-7del
ENST00000670741.1:c.674+94_674+98del	ENSP00000499492.1:n.674+94_674+98del
ENST00000671022.1:n.765-11_765-7del
ENST00000244020.4:c.675-11_675-7del	ENSP00000244020.3:n.675-11_675-7del
ENST00000483871.6:c.*535-11_*535-7del	ENSP00000433544.1:n.*535-11_*535-7del
NM_006275.5:c.675-11_675-7del	NP_006266.2:n.675-11_675-7del
NR_034009.1:n.1113-11_1113-7del
XR_936608.1:n.1434-11_1434-7del
XR_936608.2:n.1434-11_1434-7del
NM_006275.6:c.675-11_675-7del MANE Select	NP_006266.2:n.675-11_675-7del
NR_034009.2:n.1081-11_1081-7del