Canonical Allele Identifier: CA314557473

Gene: SRSF6

Linked Data

• dbSNP Id: rs763788728
• gnomAD v2: 20-42089319-G-GA
• gnomAD v4: 20-43460679-G-GA
• MyVariant Identifiers: chr20:g.42089319_42089320insA (hg19) ; chr20:g.43460679_43460680insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460683dup , CM000682.2:g.43460683dup	GRCh38
NC_000020.10:g.42089323dup , CM000682.1:g.42089323dup	GRCh37
NC_000020.9:g.41522737dup	NCBI36
NG_029906.1:g.7820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.675-20dup MANE Select	ENSP00000244020.3:n.675-20dup
ENST00000657241.1:c.654+85dup
ENST00000662078.1:c.674+85dup	ENSP00000499666.1:n.674+85dup
ENST00000668808.1:c.675-20dup	ENSP00000499517.1:n.675-20dup
ENST00000670741.1:c.674+85dup	ENSP00000499492.1:n.674+85dup
ENST00000671022.1:n.765-20dup
ENST00000244020.4:c.675-20dup	ENSP00000244020.3:n.675-20dup
ENST00000483871.6:c.*535-20dup	ENSP00000433544.1:n.*535-20dup
NM_006275.5:c.675-20dup	NP_006266.2:n.675-20dup
NR_034009.1:n.1113-20dup
XR_936608.1:n.1434-20dup
XR_936608.2:n.1434-20dup
NM_006275.6:c.675-20dup MANE Select	NP_006266.2:n.675-20dup
NR_034009.2:n.1081-20dup