Canonical Allele Identifier: CA1040240165

Gene: ITGAV

Linked Data

• dbSNP Id: rs1687874972
• gnomAD v3: 2-186633543-ATATATAT-A
• gnomAD v4: 2-186633543-ATATATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186633546_186633552del , CM000664.2:g.186633546_186633552del	GRCh38
NC_000002.11:g.187498273_187498279del , CM000664.1:g.187498273_187498279del	GRCh37
NC_000002.10:g.187206518_187206524del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696906.1:c.631+172_631+178del	ENSP00000512967.1:n.631+172_631+178del
ENST00000696907.1:c.454+172_454+178del	ENSP00000512968.1:n.454+172_454+178del
ENST00000696908.1:c.*41+172_*41+178del	ENSP00000512969.1:n.*41+172_*41+178del
ENST00000696909.1:c.454+172_454+178del	ENSP00000512970.1:n.454+172_454+178del
ENST00000696910.1:c.631+172_631+178del	ENSP00000512971.1:n.631+172_631+178del
ENST00000696911.1:c.631+172_631+178del	ENSP00000512972.1:n.631+172_631+178del
ENST00000696912.1:c.631+172_631+178del	ENSP00000512973.1:n.631+172_631+178del
ENST00000696913.1:c.631+172_631+178del	ENSP00000512974.1:n.631+172_631+178del
ENST00000696914.1:c.*183+172_*183+178del	ENSP00000512975.1:n.*183+172_*183+178del
ENST00000696917.1:n.1140+172_1140+178del
ENST00000696936.1:n.901+172_901+178del
ENST00000696937.1:c.631+172_631+178del	ENSP00000512982.1:n.631+172_631+178del
ENST00000261023.8:c.631+172_631+178del MANE Select	ENSP00000261023.3:n.631+172_631+178del
ENST00000261023.7:c.631+172_631+178del	ENSP00000261023.3:n.631+172_631+178del
ENST00000374907.7:c.524-2536_524-2530del	ENSP00000364042.3:n.524-2536_524-2530del
ENST00000433736.6:c.493+172_493+178del	ENSP00000404291.2:n.493+172_493+178del
NM_001144999.2:c.493+172_493+178del	NP_001138471.1:n.493+172_493+178del
NM_001145000.2:c.524-2536_524-2530del	NP_001138472.1:n.524-2536_524-2530del
NM_002210.4:c.631+172_631+178del	NP_002201.1:n.631+172_631+178del
XM_006712513.2:c.190+172_190+178del	XP_006712576.1:n.190+172_190+178del
NM_002210.5:c.631+172_631+178del MANE Select	NP_002201.2:n.631+172_631+178del
NM_001145000.3:c.524-2536_524-2530del	NP_001138472.2:n.524-2536_524-2530del
NM_001144999.3:c.493+172_493+178del	NP_001138471.2:n.493+172_493+178del