Canonical Allele Identifier: CA1017753571

Gene: SRSF6

Linked Data

• dbSNP Id: rs2017569604
• gnomAD v3: 20-43460603-ATAACG-A
• gnomAD v4: 20-43460603-ATAACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460605_43460609del , CM000682.2:g.43460605_43460609del	GRCh38
NC_000020.10:g.42089245_42089249del , CM000682.1:g.42089245_42089249del	GRCh37
NC_000020.9:g.41522659_41522663del	NCBI36
NG_029906.1:g.7742_7746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.674+7_674+11del MANE Select	ENSP00000244020.3:n.674+7_674+11del
ENST00000657241.1:c.654+7_654+11del
ENST00000662078.1:c.674+7_674+11del	ENSP00000499666.1:n.674+7_674+11del
ENST00000668808.1:c.674+7_674+11del	ENSP00000499517.1:n.674+7_674+11del
ENST00000670741.1:c.674+7_674+11del	ENSP00000499492.1:n.674+7_674+11del
ENST00000671022.1:n.764+7_764+11del
ENST00000244020.4:c.674+7_674+11del	ENSP00000244020.3:n.674+7_674+11del
ENST00000483871.6:c.*534+7_*534+11del	ENSP00000433544.1:n.*534+7_*534+11del
NM_006275.5:c.674+7_674+11del	NP_006266.2:n.674+7_674+11del
NR_034009.1:n.1112+7_1112+11del
XR_936608.1:n.1433+7_1433+11del
XR_936608.2:n.1433+7_1433+11del
NM_006275.6:c.674+7_674+11del MANE Select	NP_006266.2:n.674+7_674+11del
NR_034009.2:n.1080+7_1080+11del