Canonical Allele Identifier: CA2580091480

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 2444093
• ClinVar RCV Id: RCV003152891

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737276_30737277del , CM000678.2:g.30737276_30737277del	GRCh38
NC_000016.9:g.30748597_30748598del , CM000678.1:g.30748597_30748598del	GRCh37
NC_000016.8:g.30656098_30656099del	NCBI36
NG_032135.1:g.43136_43137del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7236_7237del	ENSP00000405186.3:p.Pro2413CysfsTer29
ENST00000704023.1:c.1516_1517del
ENST00000706321.1:c.7236_7237del	ENSP00000516346.1:p.Pro2413CysfsTer29
ENST00000262518.9:c.7236_7237del MANE Select	ENSP00000262518.4:p.Pro2413CysfsTer29
ENST00000262518.8:c.7236_7237del	ENSP00000262518.4:p.Pro2413CysfsTer29
ENST00000380361.7:c.6705_6706del	ENSP00000369719.3:p.Pro2236CysfsTer29
ENST00000395059.6:c.6459_6460del	ENSP00000378499.3:p.Pro2154CysfsTer29
NM_006662.2:c.7236_7237del	NP_006653.2:p.Pro2413CysfsTer29
NM_006662.3:c.7236_7237del MANE Select	NP_006653.2:p.Pro2413CysfsTer29