Canonical Allele Identifier: CA10163887

Gene: SRRD

Linked Data

• ClinVar Variation Id: 402950
• ClinVar RCV Id: RCV000454538
• dbSNP Id: rs66831137
• ExAC: 22:26879946 GGAGGCGGCGCCCCGGGGGAGA / G
• gnomAD v2: 22-26879946-GGAGGCGGCGCCCCGGGGGAGA-G
• gnomAD v3: 22-26483980-GGAGGCGGCGCCCCGGGGGAGA-G
• gnomAD v4: 22-26483980-GGAGGCGGCGCCCCGGGGGAGA-G
• COSMIC: COSM5967548
• MyVariant Identifiers: chr22:g.26879985_26880005del (hg19) ; chr22:g.26879968_26879988del (hg19) ; chr22:g.26879947_26879967del (hg19) ; chr22:g.26484002_26484022del (hg38) ; chr22:g.26483982_26484002del (hg38) ; chr22:g.26483981_26484001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26484019_26484039del , CM000684.2:g.26484019_26484039del	GRCh38
NC_000022.10:g.26879985_26880005del , CM000684.1:g.26879985_26880005del	GRCh37
NC_000022.9:g.25209985_25210005del	NCBI36
NG_009763.2:g.4863_4883del , LRG_590:g.4863_4883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215917.11:c.129_149del MANE Select	ENSP00000215917.6:p.Arg44_Gly50del
ENST00000613968.1:c.117_137del
NM_001013694.2:c.129_149del	NP_001013716.2:p.Arg44_Gly50del
XM_011530178.2:c.-131_-111del	XP_011528480.1:n.-131_-111del
XM_017028799.2:c.129_149del	XP_016884288.1:p.Arg44_Gly50del
NM_001013694.3:c.129_149del MANE Select	NP_001013716.2:p.Arg44_Gly50del