Canonical Allele Identifier: CA762025052

Gene: ITGAV

Linked Data

• dbSNP Id: rs1353948590
• gnomAD v3: 2-186633199-TAAAG-T
• gnomAD v4: 2-186633199-TAAAG-T
• MyVariant Identifiers: chr2:g.187497927_187497930del (hg19) ; chr2:g.186633200_186633203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186633201_186633204del , CM000664.2:g.186633201_186633204del	GRCh38
NC_000002.11:g.187497928_187497931del , CM000664.1:g.187497928_187497931del	GRCh37
NC_000002.10:g.187206173_187206176del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696906.1:c.586-128_586-125del	ENSP00000512967.1:n.586-128_586-125del
ENST00000696907.1:c.409-128_409-125del	ENSP00000512968.1:n.409-128_409-125del
ENST00000696908.1:c.524-128_524-125del	ENSP00000512969.1:n.524-128_524-125del
ENST00000696909.1:c.409-128_409-125del	ENSP00000512970.1:n.409-128_409-125del
ENST00000696910.1:c.586-128_586-125del	ENSP00000512971.1:n.586-128_586-125del
ENST00000696911.1:c.586-128_586-125del	ENSP00000512972.1:n.586-128_586-125del
ENST00000696912.1:c.586-128_586-125del	ENSP00000512973.1:n.586-128_586-125del
ENST00000696913.1:c.586-128_586-125del	ENSP00000512974.1:n.586-128_586-125del
ENST00000696914.1:c.*138-128_*138-125del	ENSP00000512975.1:n.*138-128_*138-125del
ENST00000696917.1:n.1095-128_1095-125del
ENST00000696936.1:n.856-128_856-125del
ENST00000696937.1:c.586-128_586-125del	ENSP00000512982.1:n.586-128_586-125del
ENST00000261023.8:c.586-128_586-125del MANE Select	ENSP00000261023.3:n.586-128_586-125del
ENST00000261023.7:c.586-128_586-125del	ENSP00000261023.3:n.586-128_586-125del
ENST00000374907.7:c.524-2881_524-2878del	ENSP00000364042.3:n.524-2881_524-2878del
ENST00000433736.6:c.448-128_448-125del	ENSP00000404291.2:n.448-128_448-125del
NM_001144999.2:c.448-128_448-125del	NP_001138471.1:n.448-128_448-125del
NM_001145000.2:c.524-2881_524-2878del	NP_001138472.1:n.524-2881_524-2878del
NM_002210.4:c.586-128_586-125del	NP_002201.1:n.586-128_586-125del
XM_006712513.2:c.145-128_145-125del	XP_006712576.1:n.145-128_145-125del
NM_002210.5:c.586-128_586-125del MANE Select	NP_002201.2:n.586-128_586-125del
NM_001145000.3:c.524-2881_524-2878del	NP_001138472.2:n.524-2881_524-2878del
NM_001144999.3:c.448-128_448-125del	NP_001138471.2:n.448-128_448-125del