Canonical Allele Identifier: CA153197

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 129291
• ClinVar RCV Id: RCV000117292
• dbSNP Id: rs587780362
• ExAC: 12:56092270 A / AC
• gnomAD v2: 12-56092270-A-AC
• gnomAD v3: 12-55698486-A-AC
• gnomAD v4: 12-55698486-A-AC
• MyVariant Identifiers: chr12:g.56092271dupC (hg19) ; chr12:g.56092271_56092272insC (hg19) ; chr12:g.56092270_56092271insC (hg19) ; chr12:g.55698487dupC (hg38) ; chr12:g.55698486_55698487insC (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000553893.6:c.*775+24dup	ENSP00000452467.1:n.*775+24dup
ENST00000557257.2:c.614dup	ENSP00000450578.2:p.His206SerfsTer15
ENST00000557555.3:c.1100dup	ENSP00000451039.3:p.His368SerfsTer15
ENST00000686981.1:c.*799dup	ENSP00000510795.1:n.*799dup
ENST00000691052.1:c.968dup	ENSP00000508886.1:p.His324SerfsTer15
ENST00000691973.1:c.1100dup	ENSP00000509141.1:p.His368SerfsTer15
ENST00000257879.11:c.1088dup MANE Select	ENSP00000257879.7:p.His364SerfsTer15
ENST00000553804.6:c.1100dup	ENSP00000452120.1:p.His368SerfsTer15
ENST00000257879.10:c.1088dup	ENSP00000257879.6:p.His364SerfsTer15
ENST00000347027.10:c.1088dup	ENSP00000343009.6:p.His364SerfsTer15
ENST00000452168.6:c.809dup	ENSP00000393844.2:p.His271SerfsTer15
ENST00000553804.5:c.1100dup	ENSP00000452120.1:p.His368SerfsTer15
ENST00000555728.5:c.1220dup	ENSP00000452387.1:p.His408SerfsTer15
ENST00000556273.5:c.272+223dup	ENSP00000450679.1:n.272+223dup
NM_001144996.1:c.1100dup	NP_001138468.1:p.His368SerfsTer15
NM_001144997.1:c.809dup	NP_001138469.1:p.His271SerfsTer15
NM_002206.2:c.1088dup	NP_002197.2:p.His364SerfsTer15
XM_005268839.1:c.1220dup	XP_005268896.1:p.His408SerfsTer15
XM_005268840.1:c.1220dup	XP_005268897.1:p.His408SerfsTer15
XM_005268841.1:c.1220dup	XP_005268898.1:p.His408SerfsTer15
XM_005268842.1:c.1088dup	XP_005268899.1:p.His364SerfsTer15
XM_005268844.1:c.881dup	XP_005268901.1:p.His295SerfsTer15
XM_005268845.1:c.749dup	XP_005268902.1:p.His251SerfsTer15
XM_005268846.1:c.749dup	XP_005268903.1:p.His251SerfsTer15
XM_005268847.1:c.746dup	XP_005268904.1:p.His250SerfsTer15
XM_005268848.1:c.746dup	XP_005268905.1:p.His250SerfsTer15
XM_005268849.1:c.746dup	XP_005268906.1:p.His250SerfsTer15
XM_005268850.1:c.614dup	XP_005268907.1:p.His206SerfsTer15
XM_011538286.1:c.881dup	XP_011536588.1:p.His295SerfsTer15
XM_011538287.1:c.1220dup	XP_011536589.1:p.His408SerfsTer15
XM_005268839.2:c.1220dup	XP_005268896.1:p.His408SerfsTer15
XM_005268840.2:c.1220dup	XP_005268897.1:p.His408SerfsTer15
XM_005268841.2:c.1220dup	XP_005268898.1:p.His408SerfsTer15
XM_005268842.2:c.1088dup	XP_005268899.1:p.His364SerfsTer15
XM_017019265.1:c.830dup	XP_016874754.1:p.His278SerfsTer15
NM_001144996.2:c.1100dup	NP_001138468.1:p.His368SerfsTer15
NM_001367993.1:c.761dup	NP_001354922.1:p.His255SerfsTer15
NM_001367994.1:c.-205dup	NP_001354923.1:n.-205dup
NM_001374465.1:c.1088dup	NP_001361394.1:p.His364SerfsTer15
NM_002206.3:c.1088dup MANE Select	NP_002197.2:p.His364SerfsTer15