Canonical Allele Identifier: CA2652924073

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460652-T-TATGTGTACATTCTCACTAAGTATTGAGAAAATCGGTCTTTCCTTGTCCAGTTCCAGGTCGCGGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460654_43460719dup , CM000682.2:g.43460654_43460719dup	GRCh38
NC_000020.10:g.42089294_42089359dup , CM000682.1:g.42089294_42089359dup	GRCh37
NC_000020.9:g.41522708_41522773dup	NCBI36
NG_029906.1:g.7791_7856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.675-49_691dup
ENST00000657241.1:c.654+56_654+121dup
ENST00000662078.1:c.674+56_674+121dup	ENSP00000499666.1:n.674+56_674+121dup
ENST00000668808.1:c.675-49_691dup
ENST00000670741.1:c.674+56_674+121dup	ENSP00000499492.1:n.674+56_674+121dup
ENST00000671022.1:n.765-49_781dup
ENST00000244020.4:c.675-49_691dup
ENST00000483871.6:c.*535-49_*551dup
NM_006275.5:c.675-49_691dup
NR_034009.1:n.1113-49_1129dup
XR_936608.1:n.1434-49_1450dup
XR_936608.2:n.1434-49_1450dup
NM_006275.6:c.675-49_691dup
NR_034009.2:n.1081-49_1097dup