Canonical Allele Identifier: CA8012311
Gene: SRCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 225482
ClinVar RCV Id: RCV000490494
dbSNP Id: rs770423372
ExAC: 16:30745938 T / TA
gnomAD v2: 16-30745938-T-TA
gnomAD v3: 16-30734617-T-TA
gnomAD v4: 16-30734617-T-TA
MyVariant Identifiers: chr16:g.30745939dupA (hg19) chr16:g.30745940_30745941insA (hg19) chr16:g.30745938_30745939insA (hg19) chr16:g.30734618dupA (hg38) chr16:g.30734617_30734618insA (hg38)
PubMed: PMID:22265015
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30734624dup , CM000678.2:g.30734624dup GRCh38
NC_000016.9:g.30745945dup , CM000678.1:g.30745945dup GRCh37
NC_000016.8:g.30653446dup NCBI36
NG_032135.1:g.40484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411466.7:c.6729+9dup ENSP00000405186.3:n.6729+9dup
ENST00000704023.1:c.1009+9dup
ENST00000706321.1:c.6729+9dup ENSP00000516346.1:n.6729+9dup
ENST00000262518.9:c.6729+9dup MANE Select ENSP00000262518.4:n.6729+9dup
ENST00000262518.8:c.6729+9dup ENSP00000262518.4:n.6729+9dup
ENST00000380361.7:c.6198+9dup ENSP00000369719.3:n.6198+9dup
ENST00000395059.6:c.5952+9dup ENSP00000378499.3:n.5952+9dup
ENST00000474008.1:n.666+9dup
NM_006662.2:c.6729+9dup NP_006653.2:n.6729+9dup
NM_006662.3:c.6729+9dup MANE Select NP_006653.2:n.6729+9dup
Search 100 bp 5'
Search 100 bp 3'