Canonical Allele Identifier: CA645587757
Gene: SRCAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737179_30737180delinsTT , CM000678.2:g.30737179_30737180delinsTT GRCh38
NC_000016.9:g.30748500_30748501delinsTT , CM000678.1:g.30748500_30748501delinsTT GRCh37
NC_000016.8:g.30656001_30656002delinsTT NCBI36
NG_032135.1:g.43039_43040delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7139_7140delinsTT ENSP00000405186.3:p.Arg2380Leu
ENST00000704023.1:c.1419_1420delinsTT
ENST00000706321.1:c.7139_7140delinsTT ENSP00000516346.1:p.Arg2380Leu
ENST00000262518.9:c.7139_7140delinsTT MANE Select ENSP00000262518.4:p.Arg2380Leu
ENST00000262518.8:c.7139_7140delinsTT ENSP00000262518.4:p.Arg2380Leu
ENST00000380361.7:c.6608_6609delinsTT ENSP00000369719.3:p.Arg2203Leu
ENST00000395059.6:c.6362_6363delinsTT ENSP00000378499.3:p.Arg2121Leu
NM_006662.2:c.7139_7140delinsTT NP_006653.2:p.Arg2380Leu
NM_006662.3:c.7139_7140delinsTT MANE Select NP_006653.2:p.Arg2380Leu