Canonical Allele Identifier: CA1314322370
Gene: ITGAV HGNC NCBI

Linked Data

dbSNP Id: rs1687875736

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.186633590_186633604del , CM000664.2:g.186633590_186633604del GRCh38
NC_000002.11:g.187498317_187498331del , CM000664.1:g.187498317_187498331del GRCh37
NC_000002.10:g.187206562_187206576del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696906.1:c.631+216_631+230del ENSP00000512967.1:n.631+216_631+230del
ENST00000696907.1:c.454+216_454+230del ENSP00000512968.1:n.454+216_454+230del
ENST00000696908.1:c.*41+216_*41+230del ENSP00000512969.1:n.*41+216_*41+230del
ENST00000696909.1:c.454+216_454+230del ENSP00000512970.1:n.454+216_454+230del
ENST00000696910.1:c.631+216_631+230del ENSP00000512971.1:n.631+216_631+230del
ENST00000696911.1:c.631+216_631+230del ENSP00000512972.1:n.631+216_631+230del
ENST00000696912.1:c.631+216_631+230del ENSP00000512973.1:n.631+216_631+230del
ENST00000696913.1:c.631+216_631+230del ENSP00000512974.1:n.631+216_631+230del
ENST00000696914.1:c.*183+216_*183+230del ENSP00000512975.1:n.*183+216_*183+230del
ENST00000696917.1:n.1140+216_1140+230del
ENST00000696936.1:n.901+216_901+230del
ENST00000696937.1:c.631+216_631+230del ENSP00000512982.1:n.631+216_631+230del
ENST00000261023.8:c.631+216_631+230del MANE Select ENSP00000261023.3:n.631+216_631+230del
ENST00000261023.7:c.631+216_631+230del ENSP00000261023.3:n.631+216_631+230del
ENST00000374907.7:c.524-2492_524-2478del ENSP00000364042.3:n.524-2492_524-2478del
ENST00000433736.6:c.493+216_493+230del ENSP00000404291.2:n.493+216_493+230del
NM_001144999.2:c.493+216_493+230del NP_001138471.1:n.493+216_493+230del
NM_001145000.2:c.524-2492_524-2478del NP_001138472.1:n.524-2492_524-2478del
NM_002210.4:c.631+216_631+230del NP_002201.1:n.631+216_631+230del
XM_006712513.2:c.190+216_190+230del XP_006712576.1:n.190+216_190+230del
NM_002210.5:c.631+216_631+230del MANE Select NP_002201.2:n.631+216_631+230del
NM_001145000.3:c.524-2492_524-2478del NP_001138472.2:n.524-2492_524-2478del
NM_001144999.3:c.493+216_493+230del NP_001138471.2:n.493+216_493+230del