Canonical Allele Identifier: CA537996331

Gene: ITGAV

Linked Data

• dbSNP Id: rs1255524306
• gnomAD v2: 2-187498135-CTA-C
• gnomAD v3: 2-186633408-CTA-C
• gnomAD v4: 2-186633408-CTA-C
• MyVariant Identifiers: chr2:g.187498136_187498137del (hg19) ; chr2:g.186633409_186633410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.186633410_186633411del , CM000664.2:g.186633410_186633411del	GRCh38
NC_000002.11:g.187498137_187498138del , CM000664.1:g.187498137_187498138del	GRCh37
NC_000002.10:g.187206382_187206383del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696906.1:c.631+36_631+37del	ENSP00000512967.1:n.631+36_631+37del
ENST00000696907.1:c.454+36_454+37del	ENSP00000512968.1:n.454+36_454+37del
ENST00000696908.1:c.*41+36_*41+37del	ENSP00000512969.1:n.*41+36_*41+37del
ENST00000696909.1:c.454+36_454+37del	ENSP00000512970.1:n.454+36_454+37del
ENST00000696910.1:c.631+36_631+37del	ENSP00000512971.1:n.631+36_631+37del
ENST00000696911.1:c.631+36_631+37del	ENSP00000512972.1:n.631+36_631+37del
ENST00000696912.1:c.631+36_631+37del	ENSP00000512973.1:n.631+36_631+37del
ENST00000696913.1:c.631+36_631+37del	ENSP00000512974.1:n.631+36_631+37del
ENST00000696914.1:c.*183+36_*183+37del	ENSP00000512975.1:n.*183+36_*183+37del
ENST00000696917.1:n.1140+36_1140+37del
ENST00000696936.1:n.901+36_901+37del
ENST00000696937.1:c.631+36_631+37del	ENSP00000512982.1:n.631+36_631+37del
ENST00000261023.8:c.631+36_631+37del MANE Select	ENSP00000261023.3:n.631+36_631+37del
ENST00000261023.7:c.631+36_631+37del	ENSP00000261023.3:n.631+36_631+37del
ENST00000374907.7:c.524-2672_524-2671del	ENSP00000364042.3:n.524-2672_524-2671del
ENST00000433736.6:c.493+36_493+37del	ENSP00000404291.2:n.493+36_493+37del
NM_001144999.2:c.493+36_493+37del	NP_001138471.1:n.493+36_493+37del
NM_001145000.2:c.524-2672_524-2671del	NP_001138472.1:n.524-2672_524-2671del
NM_002210.4:c.631+36_631+37del	NP_002201.1:n.631+36_631+37del
XM_006712513.2:c.190+36_190+37del	XP_006712576.1:n.190+36_190+37del
NM_002210.5:c.631+36_631+37del MANE Select	NP_002201.2:n.631+36_631+37del
NM_001145000.3:c.524-2672_524-2671del	NP_001138472.2:n.524-2672_524-2671del
NM_001144999.3:c.493+36_493+37del	NP_001138471.2:n.493+36_493+37del