Canonical Allele Identifier: CA537996325

Gene: ITGAV

Linked Data

• dbSNP Id: rs1418931926
• gnomAD v2: 2-187498080-CCT-C
• gnomAD v4: 2-186633353-CCT-C
• MyVariant Identifiers: chr2:g.187498081_187498082del (hg19) ; chr2:g.186633354_186633355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186633354_186633355del , CM000664.2:g.186633354_186633355del	GRCh38
NC_000002.11:g.187498081_187498082del , CM000664.1:g.187498081_187498082del	GRCh37
NC_000002.10:g.187206326_187206327del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696906.1:c.611_612del	ENSP00000512967.1:p.Pro204ArgfsTer2
ENST00000696907.1:c.434_435del	ENSP00000512968.1:p.Pro145ArgfsTer2
ENST00000696908.1:c.*21_*22del	ENSP00000512969.1:n.*21_*22del
ENST00000696909.1:c.434_435del	ENSP00000512970.1:p.Pro145ArgfsTer2
ENST00000696910.1:c.611_612del	ENSP00000512971.1:p.Pro204ArgfsTer2
ENST00000696911.1:c.611_612del	ENSP00000512972.1:p.Pro204ArgfsTer2
ENST00000696912.1:c.611_612del	ENSP00000512973.1:p.Pro204ArgfsTer2
ENST00000696913.1:c.611_612del	ENSP00000512974.1:p.Pro204ArgfsTer2
ENST00000696914.1:c.*163_*164del	ENSP00000512975.1:n.*163_*164del
ENST00000696917.1:n.1120_1121del
ENST00000696936.1:n.881_882del
ENST00000696937.1:c.611_612del	ENSP00000512982.1:p.Pro204ArgfsTer2
ENST00000261023.8:c.611_612del MANE Select	ENSP00000261023.3:p.Pro204ArgfsTer2
ENST00000261023.7:c.611_612del	ENSP00000261023.3:p.Pro204ArgfsTer2
ENST00000374907.7:c.524-2728_524-2727del	ENSP00000364042.3:n.524-2728_524-2727del
ENST00000433736.6:c.473_474del	ENSP00000404291.2:p.Pro158ArgfsTer2
NM_001144999.2:c.473_474del	NP_001138471.1:p.Pro158ArgfsTer2
NM_001145000.2:c.524-2728_524-2727del	NP_001138472.1:n.524-2728_524-2727del
NM_002210.4:c.611_612del	NP_002201.1:p.Pro204ArgfsTer2
XM_006712513.2:c.170_171del	XP_006712576.1:p.Pro57ArgfsTer2
NM_002210.5:c.611_612del MANE Select	NP_002201.2:p.Pro204ArgfsTer2
NM_001145000.3:c.524-2728_524-2727del	NP_001138472.2:n.524-2728_524-2727del
NM_001144999.3:c.473_474del	NP_001138471.2:p.Pro158ArgfsTer2