Canonical Allele Identifier: CA10586208

Gene: GANAB

Linked Data

• ClinVar Variation Id: 253129
• ClinVar RCV Id: RCV000239562
• dbSNP Id: rs879255641
• MyVariant Identifiers: chr11:g.62396753_62396754del (hg19) ; chr11:g.62629281_62629282del (hg38)
• PubMed: PMID:27259053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62629281_62629282del , CM000673.2:g.62629281_62629282del	GRCh38
NC_000011.9:g.62396753_62396754del , CM000673.1:g.62396753_62396754del	GRCh37
NC_000011.8:g.62153329_62153330del	NCBI36
NG_053018.1:g.22445_22446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356638.8:c.1848_1849del MANE Select	ENSP00000349053.3:p.Asp618GlnfsTer?
ENST00000648273.1:c.1557_1558del	ENSP00000497655.1:p.Asp521GlnfsTer?
ENST00000346178.8:c.1914_1915del	ENSP00000340466.4:p.Asp640GlnfsTer?
ENST00000356638.7:c.1848_1849del	ENSP00000349053.3:p.Asp618GlnfsTer?
ENST00000532402.5:c.*1580_*1581del	ENSP00000432181.1:n.*1580_*1581del
ENST00000534779.5:c.1572_1573del	ENSP00000435306.1:p.Asp526GlnfsTer?
ENST00000540933.5:c.1557_1558del	ENSP00000442962.1:p.Asp521GlnfsTer?
NM_001278192.1:c.1572_1573del	NP_001265121.1:p.Asp526GlnfsTer?
NM_001278193.1:c.1506_1507del	NP_001265122.1:p.Asp504GlnfsTer?
NM_001278194.1:c.1557_1558del	NP_001265123.1:p.Asp521GlnfsTer?
NM_198334.2:c.1848_1849del	NP_938148.1:p.Asp618GlnfsTer?
NM_198335.3:c.1914_1915del	NP_938149.2:p.Asp640GlnfsTer?
NM_001329222.1:c.1557_1558del	NP_001316151.1:p.Asp521GlnfsTer?
NM_001329223.1:c.1557_1558del	NP_001316152.1:p.Asp521GlnfsTer?
NM_001329224.1:c.1125_1126del	NP_001316153.1:p.Asp377GlnfsTer?
NM_001329225.1:c.1125_1126del	NP_001316154.1:p.Asp377GlnfsTer?
XM_017017412.1:c.1557_1558del	XP_016872901.1:p.Asp521GlnfsTer?
NM_198334.3:c.1848_1849del MANE Select	NP_938148.1:p.Asp618GlnfsTer?
NM_001278192.2:c.1572_1573del	NP_001265121.1:p.Asp526GlnfsTer?
NM_001278193.2:c.1506_1507del	NP_001265122.1:p.Asp504GlnfsTer?
NM_001329223.2:c.1557_1558del	NP_001316152.1:p.Asp521GlnfsTer?
NM_001329225.2:c.1125_1126del	NP_001316154.1:p.Asp377GlnfsTer?
NM_198335.4:c.1914_1915del	NP_938149.2:p.Asp640GlnfsTer?
NM_001278194.2:c.1557_1558del	NP_001265123.1:p.Asp521GlnfsTer?
NM_001329222.2:c.1557_1558del	NP_001316151.1:p.Asp521GlnfsTer?
NM_001329224.2:c.1125_1126del	NP_001316153.1:p.Asp377GlnfsTer?