Canonical Allele Identifier: CA6616066

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 422959
• ClinVar RCV Id: RCV000483413 ; RCV002526643
• dbSNP Id: rs587780362
• ExAC: 12:56092270 AC / A
• gnomAD v2: 12-56092270-AC-A
• gnomAD v3: 12-55698486-AC-A
• gnomAD v4: 12-55698486-AC-A
• COSMIC: COSM5841454 ; COSM5841455 ; COSM5841456 ; COSM5841457
• MyVariant Identifiers: chr12:g.56092271del (hg19) ; chr12:g.55698487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55698492del , CM000674.2:g.55698492del	GRCh38
NC_000012.11:g.56092276del , CM000674.1:g.56092276del	GRCh37
NC_000012.10:g.54378543del	NCBI36
NG_012343.1:g.18819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553893.6:c.*775+24del	ENSP00000452467.1:n.*775+24del
ENST00000557257.2:c.614del	ENSP00000450578.2:p.Gly205ValfsTer?
ENST00000557555.3:c.1100del	ENSP00000451039.3:p.Gly367ValfsTer?
ENST00000686981.1:c.*799del	ENSP00000510795.1:n.*799del
ENST00000691052.1:c.968del	ENSP00000508886.1:p.Gly323ValfsTer?
ENST00000691973.1:c.1100del	ENSP00000509141.1:p.Gly367ValfsTer?
ENST00000257879.11:c.1088del MANE Select	ENSP00000257879.7:p.Gly363ValfsTer?
ENST00000553804.6:c.1100del	ENSP00000452120.1:p.Gly367ValfsTer?
ENST00000257879.10:c.1088del	ENSP00000257879.6:p.Gly363ValfsTer?
ENST00000347027.10:c.1088del	ENSP00000343009.6:p.Gly363ValfsTer?
ENST00000452168.6:c.809del	ENSP00000393844.2:p.Gly270ValfsTer?
ENST00000553804.5:c.1100del	ENSP00000452120.1:p.Gly367ValfsTer?
ENST00000555728.5:c.1220del	ENSP00000452387.1:p.Gly407ValfsTer?
ENST00000556273.5:c.272+223del	ENSP00000450679.1:n.272+223del
NM_001144996.1:c.1100del	NP_001138468.1:p.Gly367ValfsTer?
NM_001144997.1:c.809del	NP_001138469.1:p.Gly270ValfsTer?
NM_002206.2:c.1088del	NP_002197.2:p.Gly363ValfsTer?
XM_005268839.1:c.1220del	XP_005268896.1:p.Gly407ValfsTer?
XM_005268840.1:c.1220del	XP_005268897.1:p.Gly407ValfsTer?
XM_005268841.1:c.1220del	XP_005268898.1:p.Gly407ValfsTer?
XM_005268842.1:c.1088del	XP_005268899.1:p.Gly363ValfsTer?
XM_005268844.1:c.881del	XP_005268901.1:p.Gly294ValfsTer?
XM_005268845.1:c.749del	XP_005268902.1:p.Gly250ValfsTer?
XM_005268846.1:c.749del	XP_005268903.1:p.Gly250ValfsTer?
XM_005268847.1:c.746del	XP_005268904.1:p.Gly249ValfsTer?
XM_005268848.1:c.746del	XP_005268905.1:p.Gly249ValfsTer?
XM_005268849.1:c.746del	XP_005268906.1:p.Gly249ValfsTer?
XM_005268850.1:c.614del	XP_005268907.1:p.Gly205ValfsTer?
XM_011538286.1:c.881del	XP_011536588.1:p.Gly294ValfsTer?
XM_011538287.1:c.1220del	XP_011536589.1:p.Gly407ValfsTer?
XM_005268839.2:c.1220del	XP_005268896.1:p.Gly407ValfsTer?
XM_005268840.2:c.1220del	XP_005268897.1:p.Gly407ValfsTer?
XM_005268841.2:c.1220del	XP_005268898.1:p.Gly407ValfsTer?
XM_005268842.2:c.1088del	XP_005268899.1:p.Gly363ValfsTer?
XM_017019265.1:c.830del	XP_016874754.1:p.Gly277ValfsTer?
NM_001144996.2:c.1100del	NP_001138468.1:p.Gly367ValfsTer?
NM_001367993.1:c.761del	NP_001354922.1:p.Gly254ValfsTer?
NM_001367994.1:c.-205del	NP_001354923.1:n.-205del
NM_001374465.1:c.1088del	NP_001361394.1:p.Gly363ValfsTer?
NM_002206.3:c.1088del MANE Select	NP_002197.2:p.Gly363ValfsTer?