Canonical Allele Identifier: CA8012425

Gene: SRCAP

Linked Data

• dbSNP Id: rs766457988
• ExAC: 16:30748495 C / CCGGGTGAATTGTGCATTTTTATT
• MyVariant Identifiers: chr16:g.30748495_30748496insCGGGTGAATTGTGCATTTTTATT (hg19) ; chr16:g.30737174_30737175insCGGGTGAATTGTGCATTTTTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737175_30737176insGGGTGAATTGTGCATTTTTATTC , CM000678.2:g.30737175_30737176insGGGTGAATTGTGCATTTTTATTC	GRCh38
NC_000016.9:g.30748496_30748497insGGGTGAATTGTGCATTTTTATTC , CM000678.1:g.30748496_30748497insGGGTGAATTGTGCATTTTTATTC	GRCh37
NC_000016.8:g.30655997_30655998insGGGTGAATTGTGCATTTTTATTC	NCBI36
NG_032135.1:g.43035_43036insGGGTGAATTGTGCATTTTTATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7135_7136insGGGTGAATTGTGCATTTTTATTC	ENSP00000405186.3:p.His2379ArgfsTer?
ENST00000704023.1:c.1415_1416insGGGTGAATTGTGCATTTTTATTC
ENST00000706321.1:c.7135_7136insGGGTGAATTGTGCATTTTTATTC	ENSP00000516346.1:p.His2379ArgfsTer?
ENST00000262518.9:c.7135_7136insGGGTGAATTGTGCATTTTTATTC MANE Select	ENSP00000262518.4:p.His2379ArgfsTer?
ENST00000262518.8:c.7135_7136insGGGTGAATTGTGCATTTTTATTC	ENSP00000262518.4:p.His2379ArgfsTer?
ENST00000380361.7:c.6604_6605insGGGTGAATTGTGCATTTTTATTC	ENSP00000369719.3:p.His2202ArgfsTer?
ENST00000395059.6:c.6358_6359insGGGTGAATTGTGCATTTTTATTC	ENSP00000378499.3:p.His2120ArgfsTer?
NM_006662.2:c.7135_7136insGGGTGAATTGTGCATTTTTATTC	NP_006653.2:p.His2379ArgfsTer?
NM_006662.3:c.7135_7136insGGGTGAATTGTGCATTTTTATTC MANE Select	NP_006653.2:p.His2379ArgfsTer?