Canonical Allele Identifier: CA206916

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 212301
• ClinVar RCV Id: RCV000193429 ; RCV002492882 ; RCV002517138
• dbSNP Id: rs797046007
• ExAC: 16:30749081 ACCT / A
• gnomAD v2: 16-30749081-ACCT-A
• gnomAD v3: 16-30737760-ACCT-A
• gnomAD v4: 16-30737760-ACCT-A
• COSMIC: COSM1377482
• MyVariant Identifiers: chr16:g.30749086_30749088del (hg19) ; chr16:g.30749082_30749084del (hg19) ; chr16:g.30737765_30737767del (hg38) ; chr16:g.30737761_30737763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737765_30737767del , CM000678.2:g.30737765_30737767del	GRCh38
NC_000016.9:g.30749086_30749088del , CM000678.1:g.30749086_30749088del	GRCh37
NC_000016.8:g.30656587_30656589del	NCBI36
NG_032135.1:g.43625_43627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7725_7727del	ENSP00000405186.3:p.Ser2576del
ENST00000704023.1:c.1594-26_1594-24del
ENST00000706321.1:c.7725_7727del	ENSP00000516346.1:p.Ser2576del
ENST00000262518.9:c.7725_7727del MANE Select	ENSP00000262518.4:p.Ser2576del
ENST00000262518.8:c.7725_7727del	ENSP00000262518.4:p.Ser2576del
ENST00000380361.7:c.7194_7196del	ENSP00000369719.3:p.Ser2399del
ENST00000395059.6:c.6948_6950del	ENSP00000378499.3:p.Ser2317del
NM_006662.2:c.7725_7727del	NP_006653.2:p.Ser2576del
NM_006662.3:c.7725_7727del MANE Select	NP_006653.2:p.Ser2576del